UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37020615C>A | CA443905073 | NIPBL | c.5167C>A (p.Arg1723=) c.1-43963C>A (n.1-43963C>A) c.4423C>A (p.Arg1475=) c.4969C>A (p.Arg1657=) c.4786C>A (p.Arg1596=) c.4507C>A (p.Arg1503=) c.3550C>A (p.Arg1184=) c.3541C>A (p.Arg1181=) | |
| 5 | g.37020615C= | CA1539619268 | NIPBL | c.5167C= (p.Arg1723=) c.1-43963C= (n.1-43963C=) c.4423C= (p.Arg1475=) c.4969C= (p.Arg1657=) c.4786C= (p.Arg1596=) c.4507C= (p.Arg1503=) c.3550C= (p.Arg1184=) c.3541C= (p.Arg1181=) | |
| 5 | g.37020615C>G | CA359487190 | NIPBL | c.5167C>G (p.Arg1723Gly) c.1-43963C>G (n.1-43963C>G) c.4423C>G (p.Arg1475Gly) c.4969C>G (p.Arg1657Gly) c.4786C>G (p.Arg1596Gly) c.4507C>G (p.Arg1503Gly) c.3550C>G (p.Arg1184Gly) c.3541C>G (p.Arg1181Gly) | |
| 5 | g.37020615C>T | CA252120 | NIPBL | c.5167C>T (p.Arg1723Ter) c.1-43963C>T (n.1-43963C>T) c.4423C>T (p.Arg1475Ter) c.4969C>T (p.Arg1657Ter) c.4786C>T (p.Arg1596Ter) c.4507C>T (p.Arg1503Ter) c.3550C>T (p.Arg1184Ter) c.3541C>T (p.Arg1181Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37020616G>A | CA10620336 | NIPBL | c.5168G>A (p.Arg1723Gln) c.1-43962G>A (n.1-43962G>A) c.4424G>A (p.Arg1475Gln) c.4970G>A (p.Arg1657Gln) c.4787G>A (p.Arg1596Gln) c.4508G>A (p.Arg1503Gln) c.3551G>A (p.Arg1184Gln) c.3542G>A (p.Arg1181Gln) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37020616G>C | CA359487193 | NIPBL | c.5168G>C (p.Arg1723Pro) c.1-43962G>C (n.1-43962G>C) c.4424G>C (p.Arg1475Pro) c.4970G>C (p.Arg1657Pro) c.4787G>C (p.Arg1596Pro) c.4508G>C (p.Arg1503Pro) c.3551G>C (p.Arg1184Pro) c.3542G>C (p.Arg1181Pro) | |
| 5 | g.37020616G= | CA1539619270 | NIPBL | c.5168G= (p.Arg1723=) c.1-43962G= (n.1-43962G=) c.4424G= (p.Arg1475=) c.4970G= (p.Arg1657=) c.4787G= (p.Arg1596=) c.4508G= (p.Arg1503=) c.3551G= (p.Arg1184=) c.3542G= (p.Arg1181=) | |
| 5 | g.37020616G>T | CA359487195 | NIPBL | c.5168G>T (p.Arg1723Leu) c.1-43962G>T (n.1-43962G>T) c.4424G>T (p.Arg1475Leu) c.4970G>T (p.Arg1657Leu) c.4787G>T (p.Arg1596Leu) c.4508G>T (p.Arg1503Leu) c.3551G>T (p.Arg1184Leu) c.3542G>T (p.Arg1181Leu) | |
| 5 | g.37020616_37020617delinsGA | CA1539619269 | NIPBL | c.5168_5169delinsGA (p.Arg1723=) c.1-43962_1-43961delinsGA (n.1-43962_1-43961delinsGA) c.4424_4425delinsGA (p.Arg1475=) c.4970_4971delinsGA (p.Arg1657=) c.4787_4788delinsGA (p.Arg1596=) c.4508_4509delinsGA (p.Arg1503=) c.3551_3552delinsGA (p.Arg1184=) c.3542_3543delinsGA (p.Arg1181=) | |
| 5 | g.37020617A>C | CA443905078 | NIPBL | c.5169A>C (p.Arg1723=) c.1-43961A>C (n.1-43961A>C) c.4425A>C (p.Arg1475=) c.4971A>C (p.Arg1657=) c.4788A>C (p.Arg1596=) c.4509A>C (p.Arg1503=) c.3552A>C (p.Arg1184=) c.3543A>C (p.Arg1181=) | |
| 5 | g.37020617A>G | CA443905077 | NIPBL | c.5169A>G (p.Arg1723=) c.1-43961A>G (n.1-43961A>G) c.4425A>G (p.Arg1475=) c.4971A>G (p.Arg1657=) c.4788A>G (p.Arg1596=) c.4509A>G (p.Arg1503=) c.3552A>G (p.Arg1184=) c.3543A>G (p.Arg1181=) | |
| 5 | g.37020617A>T | CA443905075 | NIPBL | c.5169A>T (p.Arg1723=) c.1-43961A>T (n.1-43961A>T) c.4425A>T (p.Arg1475=) c.4971A>T (p.Arg1657=) c.4788A>T (p.Arg1596=) c.4509A>T (p.Arg1503=) c.3552A>T (p.Arg1184=) c.3543A>T (p.Arg1181=) | |
| 5 | g.37020622del | CA272132 | NIPBL | c.5174del (p.Lys1725SerfsTer17) c.1-43956del (n.1-43956del) c.4430del (p.Lys1477SerfsTer17) c.4976del (p.Lys1659SerfsTer17) c.4793del (p.Lys1598SerfsTer17) c.4514del (p.Lys1505SerfsTer17) c.3557del (p.Lys1186SerfsTer17) c.3548del (p.Lys1183SerfsTer17) | ClinVar dbSNP |
| 5 | g.37020618A= | CA1539583959 | NIPBL | c.5170A= (p.Lys1724=) c.1-43960A= (n.1-43960A=) c.4426A= (p.Lys1476=) c.4972A= (p.Lys1658=) c.4789A= (p.Lys1597=) c.4510A= (p.Lys1504=) c.3553A= (p.Lys1185=) c.3544A= (p.Lys1182=) | |
| 5 | g.37020618A>C | CA359487202 | NIPBL | c.5170A>C (p.Lys1724Gln) c.1-43960A>C (n.1-43960A>C) c.4426A>C (p.Lys1476Gln) c.4972A>C (p.Lys1658Gln) c.4789A>C (p.Lys1597Gln) c.4510A>C (p.Lys1504Gln) c.3553A>C (p.Lys1185Gln) c.3544A>C (p.Lys1182Gln) | |
| 5 | g.37020618A>G | CA359487205 | NIPBL | c.5170A>G (p.Lys1724Glu) c.1-43960A>G (n.1-43960A>G) c.4426A>G (p.Lys1476Glu) c.4972A>G (p.Lys1658Glu) c.4789A>G (p.Lys1597Glu) c.4510A>G (p.Lys1504Glu) c.3553A>G (p.Lys1185Glu) c.3544A>G (p.Lys1182Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020618A>T | CA359487210 | NIPBL | c.5170A>T (p.Lys1724Ter) c.1-43960A>T (n.1-43960A>T) c.4426A>T (p.Lys1476Ter) c.4972A>T (p.Lys1658Ter) c.4789A>T (p.Lys1597Ter) c.4510A>T (p.Lys1504Ter) c.3553A>T (p.Lys1185Ter) c.3544A>T (p.Lys1182Ter) | |
| 5 | g.37020619A>C | CA359487216 | NIPBL | c.5171A>C (p.Lys1724Thr) c.1-43959A>C (n.1-43959A>C) c.4427A>C (p.Lys1476Thr) c.4973A>C (p.Lys1658Thr) c.4790A>C (p.Lys1597Thr) c.4511A>C (p.Lys1504Thr) c.3554A>C (p.Lys1185Thr) c.3545A>C (p.Lys1182Thr) | gnomAD v4 |
| 5 | g.37020619A>G | CA359487226 | NIPBL | c.5171A>G (p.Lys1724Arg) c.1-43959A>G (n.1-43959A>G) c.4427A>G (p.Lys1476Arg) c.4973A>G (p.Lys1658Arg) c.4790A>G (p.Lys1597Arg) c.4511A>G (p.Lys1504Arg) c.3554A>G (p.Lys1185Arg) c.3545A>G (p.Lys1182Arg) | |
| 5 | g.37020619A>T | CA359487229 | NIPBL | c.5171A>T (p.Lys1724Ile) c.1-43959A>T (n.1-43959A>T) c.4427A>T (p.Lys1476Ile) c.4973A>T (p.Lys1658Ile) c.4790A>T (p.Lys1597Ile) c.4511A>T (p.Lys1504Ile) c.3554A>T (p.Lys1185Ile) c.3545A>T (p.Lys1182Ile) | |
| 5 | g.37020620A>C | CA359487238 | NIPBL | c.5172A>C (p.Lys1724Asn) c.1-43958A>C (n.1-43958A>C) c.4428A>C (p.Lys1476Asn) c.4974A>C (p.Lys1658Asn) c.4791A>C (p.Lys1597Asn) c.4512A>C (p.Lys1504Asn) c.3555A>C (p.Lys1185Asn) c.3546A>C (p.Lys1182Asn) | |
| 5 | g.37020620A>G | CA443905081 | NIPBL | c.5172A>G (p.Lys1724=) c.1-43958A>G (n.1-43958A>G) c.4428A>G (p.Lys1476=) c.4974A>G (p.Lys1658=) c.4791A>G (p.Lys1597=) c.4512A>G (p.Lys1504=) c.3555A>G (p.Lys1185=) c.3546A>G (p.Lys1182=) | |
| 5 | g.37020620A>T | CA359487234 | NIPBL | c.5172A>T (p.Lys1724Asn) c.1-43958A>T (n.1-43958A>T) c.4428A>T (p.Lys1476Asn) c.4974A>T (p.Lys1658Asn) c.4791A>T (p.Lys1597Asn) c.4512A>T (p.Lys1504Asn) c.3555A>T (p.Lys1185Asn) c.3546A>T (p.Lys1182Asn) | |
| 5 | g.37020621A>C | CA359487253 | NIPBL | c.5173A>C (p.Lys1725Gln) c.1-43957A>C (n.1-43957A>C) c.4429A>C (p.Lys1477Gln) c.4975A>C (p.Lys1659Gln) c.4792A>C (p.Lys1598Gln) c.4513A>C (p.Lys1505Gln) c.3556A>C (p.Lys1186Gln) c.3547A>C (p.Lys1183Gln) | |
| 5 | g.37020621A>G | CA359487255 | NIPBL | c.5173A>G (p.Lys1725Glu) c.1-43957A>G (n.1-43957A>G) c.4429A>G (p.Lys1477Glu) c.4975A>G (p.Lys1659Glu) c.4792A>G (p.Lys1598Glu) c.4513A>G (p.Lys1505Glu) c.3556A>G (p.Lys1186Glu) c.3547A>G (p.Lys1183Glu) | |
| 5 | g.37020621A>T | CA359487258 | NIPBL | c.5173A>T (p.Lys1725Ter) c.1-43957A>T (n.1-43957A>T) c.4429A>T (p.Lys1477Ter) c.4975A>T (p.Lys1659Ter) c.4792A>T (p.Lys1598Ter) c.4513A>T (p.Lys1505Ter) c.3556A>T (p.Lys1186Ter) c.3547A>T (p.Lys1183Ter) | |
| 5 | g.37020622A>C | CA359487260 | NIPBL | c.5174A>C (p.Lys1725Thr) c.1-43956A>C (n.1-43956A>C) c.4430A>C (p.Lys1477Thr) c.4976A>C (p.Lys1659Thr) c.4793A>C (p.Lys1598Thr) c.4514A>C (p.Lys1505Thr) c.3557A>C (p.Lys1186Thr) c.3548A>C (p.Lys1183Thr) | |
| 5 | g.37020622A>G | CA359487261 | NIPBL | c.5174A>G (p.Lys1725Arg) c.1-43956A>G (n.1-43956A>G) c.4430A>G (p.Lys1477Arg) c.4976A>G (p.Lys1659Arg) c.4793A>G (p.Lys1598Arg) c.4514A>G (p.Lys1505Arg) c.3557A>G (p.Lys1186Arg) c.3548A>G (p.Lys1183Arg) | |
| 5 | g.37020622A>T | CA359487262 | NIPBL | c.5174A>T (p.Lys1725Met) c.1-43956A>T (n.1-43956A>T) c.4430A>T (p.Lys1477Met) c.4976A>T (p.Lys1659Met) c.4793A>T (p.Lys1598Met) c.4514A>T (p.Lys1505Met) c.3557A>T (p.Lys1186Met) c.3548A>T (p.Lys1183Met) | |
| 5 | g.37020623G>A | CA3236706 | NIPBL | c.5175G>A (p.Lys1725=) c.1-43955G>A (n.1-43955G>A) c.4431G>A (p.Lys1477=) c.4977G>A (p.Lys1659=) c.4794G>A (p.Lys1598=) c.4515G>A (p.Lys1505=) c.3558G>A (p.Lys1186=) c.3549G>A (p.Lys1183=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020623G>C | CA359487263 | NIPBL | c.5175G>C (p.Lys1725Asn) c.1-43955G>C (n.1-43955G>C) c.4431G>C (p.Lys1477Asn) c.4977G>C (p.Lys1659Asn) c.4794G>C (p.Lys1598Asn) c.4515G>C (p.Lys1505Asn) c.3558G>C (p.Lys1186Asn) c.3549G>C (p.Lys1183Asn) | |
| 5 | g.37020623G= | CA1539583986 | NIPBL | c.5175G= (p.Lys1725=) c.1-43955G= (n.1-43955G=) c.4431G= (p.Lys1477=) c.4977G= (p.Lys1659=) c.4794G= (p.Lys1598=) c.4515G= (p.Lys1505=) c.3558G= (p.Lys1186=) c.3549G= (p.Lys1183=) | |
| 5 | g.37020623G>T | CA359487264 | NIPBL | c.5175G>T (p.Lys1725Asn) c.1-43955G>T (n.1-43955G>T) c.4431G>T (p.Lys1477Asn) c.4977G>T (p.Lys1659Asn) c.4794G>T (p.Lys1598Asn) c.4515G>T (p.Lys1505Asn) c.3558G>T (p.Lys1186Asn) c.3549G>T (p.Lys1183Asn) | |
| 5 | g.37020624T>A | CA359487267 | NIPBL | c.5176T>A (p.Phe1726Ile) c.1-43954T>A (n.1-43954T>A) c.4432T>A (p.Phe1478Ile) c.4978T>A (p.Phe1660Ile) c.4795T>A (p.Phe1599Ile) c.4516T>A (p.Phe1506Ile) c.3559T>A (p.Phe1187Ile) c.3550T>A (p.Phe1184Ile) | |
| 5 | g.37020624T>C | CA359487270 | NIPBL | c.5176T>C (p.Phe1726Leu) c.1-43954T>C (n.1-43954T>C) c.4432T>C (p.Phe1478Leu) c.4978T>C (p.Phe1660Leu) c.4795T>C (p.Phe1599Leu) c.4516T>C (p.Phe1506Leu) c.3559T>C (p.Phe1187Leu) c.3550T>C (p.Phe1184Leu) | |
| 5 | g.37020624T>G | CA359487273 | NIPBL | c.5176T>G (p.Phe1726Val) c.1-43954T>G (n.1-43954T>G) c.4432T>G (p.Phe1478Val) c.4978T>G (p.Phe1660Val) c.4795T>G (p.Phe1599Val) c.4516T>G (p.Phe1506Val) c.3559T>G (p.Phe1187Val) c.3550T>G (p.Phe1184Val) | |
| 5 | g.37020625T>A | CA359487284 | NIPBL | c.5177T>A (p.Phe1726Tyr) c.1-43953T>A (n.1-43953T>A) c.4433T>A (p.Phe1478Tyr) c.4979T>A (p.Phe1660Tyr) c.4796T>A (p.Phe1599Tyr) c.4517T>A (p.Phe1506Tyr) c.3560T>A (p.Phe1187Tyr) c.3551T>A (p.Phe1184Tyr) | |
| 5 | g.37020625T>C | CA359487280 | NIPBL | c.5177T>C (p.Phe1726Ser) c.1-43953T>C (n.1-43953T>C) c.4433T>C (p.Phe1478Ser) c.4979T>C (p.Phe1660Ser) c.4796T>C (p.Phe1599Ser) c.4517T>C (p.Phe1506Ser) c.3560T>C (p.Phe1187Ser) c.3551T>C (p.Phe1184Ser) | |
| 5 | g.37020625T>G | CA359487277 | NIPBL | c.5177T>G (p.Phe1726Cys) c.1-43953T>G (n.1-43953T>G) c.4433T>G (p.Phe1478Cys) c.4979T>G (p.Phe1660Cys) c.4796T>G (p.Phe1599Cys) c.4517T>G (p.Phe1506Cys) c.3560T>G (p.Phe1187Cys) c.3551T>G (p.Phe1184Cys) | |
| 5 | g.37020626T>A | CA359487297 | NIPBL | c.5178T>A (p.Phe1726Leu) c.1-43952T>A (n.1-43952T>A) c.4434T>A (p.Phe1478Leu) c.4980T>A (p.Phe1660Leu) c.4797T>A (p.Phe1599Leu) c.4518T>A (p.Phe1506Leu) c.3561T>A (p.Phe1187Leu) c.3552T>A (p.Phe1184Leu) | gnomAD v4 |
| 5 | g.37020626T>C | CA443905086 | NIPBL | c.5178T>C (p.Phe1726=) c.1-43952T>C (n.1-43952T>C) c.4434T>C (p.Phe1478=) c.4980T>C (p.Phe1660=) c.4797T>C (p.Phe1599=) c.4518T>C (p.Phe1506=) c.3561T>C (p.Phe1187=) c.3552T>C (p.Phe1184=) | |
| 5 | g.37020626T>G | CA359487299 | NIPBL | c.5178T>G (p.Phe1726Leu) c.1-43952T>G (n.1-43952T>G) c.4434T>G (p.Phe1478Leu) c.4980T>G (p.Phe1660Leu) c.4797T>G (p.Phe1599Leu) c.4518T>G (p.Phe1506Leu) c.3561T>G (p.Phe1187Leu) c.3552T>G (p.Phe1184Leu) | |
| 5 | g.37020627C>A | CA359487305 | NIPBL | c.5179C>A (p.Leu1727Ile) c.1-43951C>A (n.1-43951C>A) c.4435C>A (p.Leu1479Ile) c.4981C>A (p.Leu1661Ile) c.4798C>A (p.Leu1600Ile) c.4519C>A (p.Leu1507Ile) c.3562C>A (p.Leu1188Ile) c.3553C>A (p.Leu1185Ile) | |
| 5 | g.37020627C>G | CA359487308 | NIPBL | c.5179C>G (p.Leu1727Val) c.1-43951C>G (n.1-43951C>G) c.4435C>G (p.Leu1479Val) c.4981C>G (p.Leu1661Val) c.4798C>G (p.Leu1600Val) c.4519C>G (p.Leu1507Val) c.3562C>G (p.Leu1188Val) c.3553C>G (p.Leu1185Val) | |
| 5 | g.37020627C>T | CA359487311 | NIPBL | c.5179C>T (p.Leu1727Phe) c.1-43951C>T (n.1-43951C>T) c.4435C>T (p.Leu1479Phe) c.4981C>T (p.Leu1661Phe) c.4798C>T (p.Leu1600Phe) c.4519C>T (p.Leu1507Phe) c.3562C>T (p.Leu1188Phe) c.3553C>T (p.Leu1185Phe) | |
| 5 | g.37020628T>A | CA359487314 | NIPBL | c.5180T>A (p.Leu1727His) c.1-43950T>A (n.1-43950T>A) c.4436T>A (p.Leu1479His) c.4982T>A (p.Leu1661His) c.4799T>A (p.Leu1600His) c.4520T>A (p.Leu1507His) c.3563T>A (p.Leu1188His) c.3554T>A (p.Leu1185His) | |
| 5 | g.37020628T>C | CA359487324 | NIPBL | c.5180T>C (p.Leu1727Pro) c.1-43950T>C (n.1-43950T>C) c.4436T>C (p.Leu1479Pro) c.4982T>C (p.Leu1661Pro) c.4799T>C (p.Leu1600Pro) c.4520T>C (p.Leu1507Pro) c.3563T>C (p.Leu1188Pro) c.3554T>C (p.Leu1185Pro) | |
| 5 | g.37020628T>G | CA359487326 | NIPBL | c.5180T>G (p.Leu1727Arg) c.1-43950T>G (n.1-43950T>G) c.4436T>G (p.Leu1479Arg) c.4982T>G (p.Leu1661Arg) c.4799T>G (p.Leu1600Arg) c.4520T>G (p.Leu1507Arg) c.3563T>G (p.Leu1188Arg) c.3554T>G (p.Leu1185Arg) | |
| 5 | g.37020629T>A | CA443905088 | NIPBL | c.5181T>A (p.Leu1727=) c.1-43949T>A (n.1-43949T>A) c.4437T>A (p.Leu1479=) c.4983T>A (p.Leu1661=) c.4800T>A (p.Leu1600=) c.4521T>A (p.Leu1507=) c.3564T>A (p.Leu1188=) c.3555T>A (p.Leu1185=) | |
| 5 | g.37020629T>C | CA443905089 | NIPBL | c.5181T>C (p.Leu1727=) c.1-43949T>C (n.1-43949T>C) c.4437T>C (p.Leu1479=) c.4983T>C (p.Leu1661=) c.4800T>C (p.Leu1600=) c.4521T>C (p.Leu1507=) c.3564T>C (p.Leu1188=) c.3555T>C (p.Leu1185=) | dbSNP gnomAD v4 |
| 5 | g.37020629T>G | CA443905090 | NIPBL | c.5181T>G (p.Leu1727=) c.1-43949T>G (n.1-43949T>G) c.4437T>G (p.Leu1479=) c.4983T>G (p.Leu1661=) c.4800T>G (p.Leu1600=) c.4521T>G (p.Leu1507=) c.3564T>G (p.Leu1188=) c.3555T>G (p.Leu1185=) | |
| 5 | g.37020629T= | CA1539583994 | NIPBL | c.5181T= (p.Leu1727=) c.1-43949T= (n.1-43949T=) c.4437T= (p.Leu1479=) c.4983T= (p.Leu1661=) c.4800T= (p.Leu1600=) c.4521T= (p.Leu1507=) c.3564T= (p.Leu1188=) c.3555T= (p.Leu1185=) | |
| 5 | g.37020630A= | CA1539584001 | NIPBL | c.5182A= (p.Arg1728=) c.1-43948A= (n.1-43948A=) c.4438A= (p.Arg1480=) c.4984A= (p.Arg1662=) c.4801A= (p.Arg1601=) c.4522A= (p.Arg1508=) c.3565A= (p.Arg1189=) c.3556A= (p.Arg1186=) | |
| 5 | g.37020630A>C | CA443905092 | NIPBL | c.5182A>C (p.Arg1728=) c.1-43948A>C (n.1-43948A>C) c.4438A>C (p.Arg1480=) c.4984A>C (p.Arg1662=) c.4801A>C (p.Arg1601=) c.4522A>C (p.Arg1508=) c.3565A>C (p.Arg1189=) c.3556A>C (p.Arg1186=) | |
| 5 | g.37020630A>G | CA3236707 | NIPBL | c.5182A>G (p.Arg1728Gly) c.1-43948A>G (n.1-43948A>G) c.4438A>G (p.Arg1480Gly) c.4984A>G (p.Arg1662Gly) c.4801A>G (p.Arg1601Gly) c.4522A>G (p.Arg1508Gly) c.3565A>G (p.Arg1189Gly) c.3556A>G (p.Arg1186Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020630A>T | CA359487334 | NIPBL | c.5182A>T (p.Arg1728Ter) c.1-43948A>T (n.1-43948A>T) c.4438A>T (p.Arg1480Ter) c.4984A>T (p.Arg1662Ter) c.4801A>T (p.Arg1601Ter) c.4522A>T (p.Arg1508Ter) c.3565A>T (p.Arg1189Ter) c.3556A>T (p.Arg1186Ter) | |
| 5 | g.37020631G>A | CA359487338 | NIPBL | c.5183G>A (p.Arg1728Lys) c.1-43947G>A (n.1-43947G>A) c.4439G>A (p.Arg1480Lys) c.4985G>A (p.Arg1662Lys) c.4802G>A (p.Arg1601Lys) c.4523G>A (p.Arg1508Lys) c.3566G>A (p.Arg1189Lys) c.3557G>A (p.Arg1186Lys) | gnomAD v4 |
| 5 | g.37020631G>C | CA359487343 | NIPBL | c.5183G>C (p.Arg1728Thr) c.1-43947G>C (n.1-43947G>C) c.4439G>C (p.Arg1480Thr) c.4985G>C (p.Arg1662Thr) c.4802G>C (p.Arg1601Thr) c.4523G>C (p.Arg1508Thr) c.3566G>C (p.Arg1189Thr) c.3557G>C (p.Arg1186Thr) | |
| 5 | g.37020631G>T | CA359487341 | NIPBL | c.5183G>T (p.Arg1728Ile) c.1-43947G>T (n.1-43947G>T) c.4439G>T (p.Arg1480Ile) c.4985G>T (p.Arg1662Ile) c.4802G>T (p.Arg1601Ile) c.4523G>T (p.Arg1508Ile) c.3566G>T (p.Arg1189Ile) c.3557G>T (p.Arg1186Ile) | |
| 5 | g.37020632A= | CA1539584006 | NIPBL | c.5184A= (p.Arg1728=) c.1-43946A= (n.1-43946A=) c.4440A= (p.Arg1480=) c.4986A= (p.Arg1662=) c.4803A= (p.Arg1601=) c.4524A= (p.Arg1508=) c.3567A= (p.Arg1189=) c.3558A= (p.Arg1186=) | |
| 5 | g.37020632A>C | CA359487348 | NIPBL | c.5184A>C (p.Arg1728Ser) c.1-43946A>C (n.1-43946A>C) c.4440A>C (p.Arg1480Ser) c.4986A>C (p.Arg1662Ser) c.4803A>C (p.Arg1601Ser) c.4524A>C (p.Arg1508Ser) c.3567A>C (p.Arg1189Ser) c.3558A>C (p.Arg1186Ser) | |
| 5 | g.37020632A>G | CA443905094 | NIPBL | c.5184A>G (p.Arg1728=) c.1-43946A>G (n.1-43946A>G) c.4440A>G (p.Arg1480=) c.4986A>G (p.Arg1662=) c.4803A>G (p.Arg1601=) c.4524A>G (p.Arg1508=) c.3567A>G (p.Arg1189=) c.3558A>G (p.Arg1186=) | |
| 5 | g.37020632A>T | CA3236708 | NIPBL | c.5184A>T (p.Arg1728Ser) c.1-43946A>T (n.1-43946A>T) c.4440A>T (p.Arg1480Ser) c.4986A>T (p.Arg1662Ser) c.4803A>T (p.Arg1601Ser) c.4524A>T (p.Arg1508Ser) c.3567A>T (p.Arg1189Ser) c.3558A>T (p.Arg1186Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020633A>C | CA359487353 | NIPBL | c.5185A>C (p.Ser1729Arg) c.1-43945A>C (n.1-43945A>C) c.4441A>C (p.Ser1481Arg) c.4987A>C (p.Ser1663Arg) c.4804A>C (p.Ser1602Arg) c.4525A>C (p.Ser1509Arg) c.3568A>C (p.Ser1190Arg) c.3559A>C (p.Ser1187Arg) | |
| 5 | g.37020633A>G | CA359487355 | NIPBL | c.5185A>G (p.Ser1729Gly) c.1-43945A>G (n.1-43945A>G) c.4441A>G (p.Ser1481Gly) c.4987A>G (p.Ser1663Gly) c.4804A>G (p.Ser1602Gly) c.4525A>G (p.Ser1509Gly) c.3568A>G (p.Ser1190Gly) c.3559A>G (p.Ser1187Gly) | |
| 5 | g.37020633A>T | CA359487360 | NIPBL | c.5185A>T (p.Ser1729Cys) c.1-43945A>T (n.1-43945A>T) c.4441A>T (p.Ser1481Cys) c.4987A>T (p.Ser1663Cys) c.4804A>T (p.Ser1602Cys) c.4525A>T (p.Ser1509Cys) c.3568A>T (p.Ser1190Cys) c.3559A>T (p.Ser1187Cys) | |
| 5 | g.37020634G>A | CA359487363 | NIPBL | c.5186G>A (p.Ser1729Asn) c.1-43944G>A (n.1-43944G>A) c.4442G>A (p.Ser1481Asn) c.4988G>A (p.Ser1663Asn) c.4805G>A (p.Ser1602Asn) c.4526G>A (p.Ser1509Asn) c.3569G>A (p.Ser1190Asn) c.3560G>A (p.Ser1187Asn) | gnomAD v4 |
| 5 | g.37020634G>C | CA359487366 | NIPBL | c.5186G>C (p.Ser1729Thr) c.1-43944G>C (n.1-43944G>C) c.4442G>C (p.Ser1481Thr) c.4988G>C (p.Ser1663Thr) c.4805G>C (p.Ser1602Thr) c.4526G>C (p.Ser1509Thr) c.3569G>C (p.Ser1190Thr) c.3560G>C (p.Ser1187Thr) | |
| 5 | g.37020634G>T | CA359487364 | NIPBL | c.5186G>T (p.Ser1729Ile) c.1-43944G>T (n.1-43944G>T) c.4442G>T (p.Ser1481Ile) c.4988G>T (p.Ser1663Ile) c.4805G>T (p.Ser1602Ile) c.4526G>T (p.Ser1509Ile) c.3569G>T (p.Ser1190Ile) c.3560G>T (p.Ser1187Ile) | |
| 5 | g.37020635C>A | CA359487369 | NIPBL | c.5187C>A (p.Ser1729Arg) c.1-43943C>A (n.1-43943C>A) c.4443C>A (p.Ser1481Arg) c.4989C>A (p.Ser1663Arg) c.4806C>A (p.Ser1602Arg) c.4527C>A (p.Ser1509Arg) c.3570C>A (p.Ser1190Arg) c.3561C>A (p.Ser1187Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020635C= | CA1539584040 | NIPBL | c.5187C= (p.Ser1729=) c.1-43943C= (n.1-43943C=) c.4443C= (p.Ser1481=) c.4989C= (p.Ser1663=) c.4806C= (p.Ser1602=) c.4527C= (p.Ser1509=) c.3570C= (p.Ser1190=) c.3561C= (p.Ser1187=) | |
| 5 | g.37020635C>G | CA359487371 | NIPBL | c.5187C>G (p.Ser1729Arg) c.1-43943C>G (n.1-43943C>G) c.4443C>G (p.Ser1481Arg) c.4989C>G (p.Ser1663Arg) c.4806C>G (p.Ser1602Arg) c.4527C>G (p.Ser1509Arg) c.3570C>G (p.Ser1190Arg) c.3561C>G (p.Ser1187Arg) | |
| 5 | g.37020635C>T | CA117028018 | NIPBL | c.5187C>T (p.Ser1729=) c.1-43943C>T (n.1-43943C>T) c.4443C>T (p.Ser1481=) c.4989C>T (p.Ser1663=) c.4806C>T (p.Ser1602=) c.4527C>T (p.Ser1509=) c.3570C>T (p.Ser1190=) c.3561C>T (p.Ser1187=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020636A= | CA1539584052 | NIPBL | c.5188A= (p.Ile1730=) c.1-43942A= (n.1-43942A=) c.4444A= (p.Ile1482=) c.4990A= (p.Ile1664=) c.4807A= (p.Ile1603=) c.4528A= (p.Ile1510=) c.3571A= (p.Ile1191=) c.3562A= (p.Ile1188=) | |
| 5 | g.37020636A>C | CA359487374 | NIPBL | c.5188A>C (p.Ile1730Leu) c.1-43942A>C (n.1-43942A>C) c.4444A>C (p.Ile1482Leu) c.4990A>C (p.Ile1664Leu) c.4807A>C (p.Ile1603Leu) c.4528A>C (p.Ile1510Leu) c.3571A>C (p.Ile1191Leu) c.3562A>C (p.Ile1188Leu) | |
| 5 | g.37020636A>G | CA3236709 | NIPBL | c.5188A>G (p.Ile1730Val) c.1-43942A>G (n.1-43942A>G) c.4444A>G (p.Ile1482Val) c.4990A>G (p.Ile1664Val) c.4807A>G (p.Ile1603Val) c.4528A>G (p.Ile1510Val) c.3571A>G (p.Ile1191Val) c.3562A>G (p.Ile1188Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020636A>T | CA359487379 | NIPBL | c.5188A>T (p.Ile1730Phe) c.1-43942A>T (n.1-43942A>T) c.4444A>T (p.Ile1482Phe) c.4990A>T (p.Ile1664Phe) c.4807A>T (p.Ile1603Phe) c.4528A>T (p.Ile1510Phe) c.3571A>T (p.Ile1191Phe) c.3562A>T (p.Ile1188Phe) | |
| 5 | g.37020637T>A | CA359487382 | NIPBL | c.5189T>A (p.Ile1730Asn) c.1-43941T>A (n.1-43941T>A) c.4445T>A (p.Ile1482Asn) c.4991T>A (p.Ile1664Asn) c.4808T>A (p.Ile1603Asn) c.4529T>A (p.Ile1510Asn) c.3572T>A (p.Ile1191Asn) c.3563T>A (p.Ile1188Asn) | |
| 5 | g.37020637T>C | CA359487385 | NIPBL | c.5189T>C (p.Ile1730Thr) c.1-43941T>C (n.1-43941T>C) c.4445T>C (p.Ile1482Thr) c.4991T>C (p.Ile1664Thr) c.4808T>C (p.Ile1603Thr) c.4529T>C (p.Ile1510Thr) c.3572T>C (p.Ile1191Thr) c.3563T>C (p.Ile1188Thr) | |
| 5 | g.37020637T>G | CA359487387 | NIPBL | c.5189T>G (p.Ile1730Ser) c.1-43941T>G (n.1-43941T>G) c.4445T>G (p.Ile1482Ser) c.4991T>G (p.Ile1664Ser) c.4808T>G (p.Ile1603Ser) c.4529T>G (p.Ile1510Ser) c.3572T>G (p.Ile1191Ser) c.3563T>G (p.Ile1188Ser) | |
| 5 | g.37020638T>A | CA443905101 | NIPBL | c.5190T>A (p.Ile1730=) c.1-43940T>A (n.1-43940T>A) c.4446T>A (p.Ile1482=) c.4992T>A (p.Ile1664=) c.4809T>A (p.Ile1603=) c.4530T>A (p.Ile1510=) c.3573T>A (p.Ile1191=) c.3564T>A (p.Ile1188=) | |
| 5 | g.37020638T>C | CA443905102 | NIPBL | c.5190T>C (p.Ile1730=) c.1-43940T>C (n.1-43940T>C) c.4446T>C (p.Ile1482=) c.4992T>C (p.Ile1664=) c.4809T>C (p.Ile1603=) c.4530T>C (p.Ile1510=) c.3573T>C (p.Ile1191=) c.3564T>C (p.Ile1188=) | |
| 5 | g.37020638T>G | CA359487388 | NIPBL | c.5190T>G (p.Ile1730Met) c.1-43940T>G (n.1-43940T>G) c.4446T>G (p.Ile1482Met) c.4992T>G (p.Ile1664Met) c.4809T>G (p.Ile1603Met) c.4530T>G (p.Ile1510Met) c.3573T>G (p.Ile1191Met) c.3564T>G (p.Ile1188Met) | |
| 5 | g.37020639A= | CA1539584056 | NIPBL | c.5191A= (p.Ile1731=) c.1-43939A= (n.1-43939A=) c.4447A= (p.Ile1483=) c.4993A= (p.Ile1665=) c.4810A= (p.Ile1604=) c.4531A= (p.Ile1511=) c.3574A= (p.Ile1192=) c.3565A= (p.Ile1189=) | |
| 5 | g.37020639A>C | CA359487391 | NIPBL | c.5191A>C (p.Ile1731Leu) c.1-43939A>C (n.1-43939A>C) c.4447A>C (p.Ile1483Leu) c.4993A>C (p.Ile1665Leu) c.4810A>C (p.Ile1604Leu) c.4531A>C (p.Ile1511Leu) c.3574A>C (p.Ile1192Leu) c.3565A>C (p.Ile1189Leu) | |
| 5 | g.37020639A>G | CA3236710 | NIPBL | c.5191A>G (p.Ile1731Val) c.1-43939A>G (n.1-43939A>G) c.4447A>G (p.Ile1483Val) c.4993A>G (p.Ile1665Val) c.4810A>G (p.Ile1604Val) c.4531A>G (p.Ile1511Val) c.3574A>G (p.Ile1192Val) c.3565A>G (p.Ile1189Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020639A>T | CA359487393 | NIPBL | c.5191A>T (p.Ile1731Phe) c.1-43939A>T (n.1-43939A>T) c.4447A>T (p.Ile1483Phe) c.4993A>T (p.Ile1665Phe) c.4810A>T (p.Ile1604Phe) c.4531A>T (p.Ile1511Phe) c.3574A>T (p.Ile1192Phe) c.3565A>T (p.Ile1189Phe) | |
| 5 | g.37020640T>A | CA359487399 | NIPBL | c.5192T>A (p.Ile1731Asn) c.1-43938T>A (n.1-43938T>A) c.4448T>A (p.Ile1483Asn) c.4994T>A (p.Ile1665Asn) c.4811T>A (p.Ile1604Asn) c.4532T>A (p.Ile1511Asn) c.3575T>A (p.Ile1192Asn) c.3566T>A (p.Ile1189Asn) | |
| 5 | g.37020640T>C | CA359487406 | NIPBL | c.5192T>C (p.Ile1731Thr) c.1-43938T>C (n.1-43938T>C) c.4448T>C (p.Ile1483Thr) c.4994T>C (p.Ile1665Thr) c.4811T>C (p.Ile1604Thr) c.4532T>C (p.Ile1511Thr) c.3575T>C (p.Ile1192Thr) c.3566T>C (p.Ile1189Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020640T>G | CA359487404 | NIPBL | c.5192T>G (p.Ile1731Ser) c.1-43938T>G (n.1-43938T>G) c.4448T>G (p.Ile1483Ser) c.4994T>G (p.Ile1665Ser) c.4811T>G (p.Ile1604Ser) c.4532T>G (p.Ile1511Ser) c.3575T>G (p.Ile1192Ser) c.3566T>G (p.Ile1189Ser) | |
| 5 | g.37020640T= | CA1539584060 | NIPBL | c.5192T= (p.Ile1731=) c.1-43938T= (n.1-43938T=) c.4448T= (p.Ile1483=) c.4994T= (p.Ile1665=) c.4811T= (p.Ile1604=) c.4532T= (p.Ile1511=) c.3575T= (p.Ile1192=) c.3566T= (p.Ile1189=) | |
| 5 | g.37020641C>A | CA443905106 | NIPBL | c.5193C>A (p.Ile1731=) c.1-43937C>A (n.1-43937C>A) c.4449C>A (p.Ile1483=) c.4995C>A (p.Ile1665=) c.4812C>A (p.Ile1604=) c.4533C>A (p.Ile1511=) c.3576C>A (p.Ile1192=) c.3567C>A (p.Ile1189=) | |
| 5 | g.37020641C>G | CA359487413 | NIPBL | c.5193C>G (p.Ile1731Met) c.1-43937C>G (n.1-43937C>G) c.4449C>G (p.Ile1483Met) c.4995C>G (p.Ile1665Met) c.4812C>G (p.Ile1604Met) c.4533C>G (p.Ile1511Met) c.3576C>G (p.Ile1192Met) c.3567C>G (p.Ile1189Met) | |
| 5 | g.37020641C>T | CA443905107 | NIPBL | c.5193C>T (p.Ile1731=) c.1-43937C>T (n.1-43937C>T) c.4449C>T (p.Ile1483=) c.4995C>T (p.Ile1665=) c.4812C>T (p.Ile1604=) c.4533C>T (p.Ile1511=) c.3576C>T (p.Ile1192=) c.3567C>T (p.Ile1189=) | |
| 5 | g.37020642A>C | CA359487414 | NIPBL | c.5194A>C (p.Lys1732Gln) c.1-43936A>C (n.1-43936A>C) c.4450A>C (p.Lys1484Gln) c.4996A>C (p.Lys1666Gln) c.4813A>C (p.Lys1605Gln) c.4534A>C (p.Lys1512Gln) c.3577A>C (p.Lys1193Gln) c.3568A>C (p.Lys1190Gln) | |
| 5 | g.37020642A>G | CA359487416 | NIPBL | c.5194A>G (p.Lys1732Glu) c.1-43936A>G (n.1-43936A>G) c.4450A>G (p.Lys1484Glu) c.4996A>G (p.Lys1666Glu) c.4813A>G (p.Lys1605Glu) c.4534A>G (p.Lys1512Glu) c.3577A>G (p.Lys1193Glu) c.3568A>G (p.Lys1190Glu) | |
| 5 | g.37020642A>T | CA359487418 | NIPBL | c.5194A>T (p.Lys1732Ter) c.1-43936A>T (n.1-43936A>T) c.4450A>T (p.Lys1484Ter) c.4996A>T (p.Lys1666Ter) c.4813A>T (p.Lys1605Ter) c.4534A>T (p.Lys1512Ter) c.3577A>T (p.Lys1193Ter) c.3568A>T (p.Lys1190Ter) | |
| 5 | g.37020643A= | CA1539584071 | NIPBL | c.5195A= (p.Lys1732=) c.1-43935A= (n.1-43935A=) c.4451A= (p.Lys1484=) c.4997A= (p.Lys1666=) c.4814A= (p.Lys1605=) c.4535A= (p.Lys1512=) c.3578A= (p.Lys1193=) c.3569A= (p.Lys1190=) | |
| 5 | g.37020643A>C | CA359487419 | NIPBL | c.5195A>C (p.Lys1732Thr) c.1-43935A>C (n.1-43935A>C) c.4451A>C (p.Lys1484Thr) c.4997A>C (p.Lys1666Thr) c.4814A>C (p.Lys1605Thr) c.4535A>C (p.Lys1512Thr) c.3578A>C (p.Lys1193Thr) c.3569A>C (p.Lys1190Thr) | |
| 5 | g.37020643A>G | CA3236711 | NIPBL | c.5195A>G (p.Lys1732Arg) c.1-43935A>G (n.1-43935A>G) c.4451A>G (p.Lys1484Arg) c.4997A>G (p.Lys1666Arg) c.4814A>G (p.Lys1605Arg) c.4535A>G (p.Lys1512Arg) c.3578A>G (p.Lys1193Arg) c.3569A>G (p.Lys1190Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020643A>T | CA359487423 | NIPBL | c.5195A>T (p.Lys1732Ile) c.1-43935A>T (n.1-43935A>T) c.4451A>T (p.Lys1484Ile) c.4997A>T (p.Lys1666Ile) c.4814A>T (p.Lys1605Ile) c.4535A>T (p.Lys1512Ile) c.3578A>T (p.Lys1193Ile) c.3569A>T (p.Lys1190Ile) | |
| 5 | g.37020644A>C | CA359487427 | NIPBL | c.5196A>C (p.Lys1732Asn) c.1-43934A>C (n.1-43934A>C) c.4452A>C (p.Lys1484Asn) c.4998A>C (p.Lys1666Asn) c.4815A>C (p.Lys1605Asn) c.4536A>C (p.Lys1512Asn) c.3579A>C (p.Lys1193Asn) c.3570A>C (p.Lys1190Asn) | |
| 5 | g.37020644A>G | CA443905109 | NIPBL | c.5196A>G (p.Lys1732=) c.1-43934A>G (n.1-43934A>G) c.4452A>G (p.Lys1484=) c.4998A>G (p.Lys1666=) c.4815A>G (p.Lys1605=) c.4536A>G (p.Lys1512=) c.3579A>G (p.Lys1193=) c.3570A>G (p.Lys1190=) | |
| 5 | g.37020644A>T | CA359487429 | NIPBL | c.5196A>T (p.Lys1732Asn) c.1-43934A>T (n.1-43934A>T) c.4452A>T (p.Lys1484Asn) c.4998A>T (p.Lys1666Asn) c.4815A>T (p.Lys1605Asn) c.4536A>T (p.Lys1512Asn) c.3579A>T (p.Lys1193Asn) c.3570A>T (p.Lys1190Asn) | |
| 5 | g.37020645A= | CA1539584083 | NIPBL | c.5197A= (p.Thr1733=) c.1-43933A= (n.1-43933A=) c.4453A= (p.Thr1485=) c.4999A= (p.Thr1667=) c.4816A= (p.Thr1606=) c.4537A= (p.Thr1513=) c.3580A= (p.Thr1194=) c.3571A= (p.Thr1191=) | |
| 5 | g.37020645A>C | CA359487432 | NIPBL | c.5197A>C (p.Thr1733Pro) c.1-43933A>C (n.1-43933A>C) c.4453A>C (p.Thr1485Pro) c.4999A>C (p.Thr1667Pro) c.4816A>C (p.Thr1606Pro) c.4537A>C (p.Thr1513Pro) c.3580A>C (p.Thr1194Pro) c.3571A>C (p.Thr1191Pro) | |
| 5 | g.37020645A>G | CA359487434 | NIPBL | c.5197A>G (p.Thr1733Ala) c.1-43933A>G (n.1-43933A>G) c.4453A>G (p.Thr1485Ala) c.4999A>G (p.Thr1667Ala) c.4816A>G (p.Thr1606Ala) c.4537A>G (p.Thr1513Ala) c.3580A>G (p.Thr1194Ala) c.3571A>G (p.Thr1191Ala) | |
| 5 | g.37020645A>T | CA3236712 | NIPBL | c.5197A>T (p.Thr1733Ser) c.1-43933A>T (n.1-43933A>T) c.4453A>T (p.Thr1485Ser) c.4999A>T (p.Thr1667Ser) c.4816A>T (p.Thr1606Ser) c.4537A>T (p.Thr1513Ser) c.3580A>T (p.Thr1194Ser) c.3571A>T (p.Thr1191Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020646C>A | CA359487439 | NIPBL | c.5198C>A (p.Thr1733Asn) c.1-43932C>A (n.1-43932C>A) c.4454C>A (p.Thr1485Asn) c.5000C>A (p.Thr1667Asn) c.4817C>A (p.Thr1606Asn) c.4538C>A (p.Thr1513Asn) c.3581C>A (p.Thr1194Asn) c.3572C>A (p.Thr1191Asn) | |
| 5 | g.37020646C= | CA1539584089 | NIPBL | c.5198C= (p.Thr1733=) c.1-43932C= (n.1-43932C=) c.4454C= (p.Thr1485=) c.5000C= (p.Thr1667=) c.4817C= (p.Thr1606=) c.4538C= (p.Thr1513=) c.3581C= (p.Thr1194=) c.3572C= (p.Thr1191=) | |
| 5 | g.37020646C>G | CA359487436 | NIPBL | c.5198C>G (p.Thr1733Ser) c.1-43932C>G (n.1-43932C>G) c.4454C>G (p.Thr1485Ser) c.5000C>G (p.Thr1667Ser) c.4817C>G (p.Thr1606Ser) c.4538C>G (p.Thr1513Ser) c.3581C>G (p.Thr1194Ser) c.3572C>G (p.Thr1191Ser) | |
| 5 | g.37020646C>T | CA3236713 | NIPBL | c.5198C>T (p.Thr1733Ile) c.1-43932C>T (n.1-43932C>T) c.4454C>T (p.Thr1485Ile) c.5000C>T (p.Thr1667Ile) c.4817C>T (p.Thr1606Ile) c.4538C>T (p.Thr1513Ile) c.3581C>T (p.Thr1194Ile) c.3572C>T (p.Thr1191Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020647C>A | CA443905112 | NIPBL | c.5199C>A (p.Thr1733=) c.1-43931C>A (n.1-43931C>A) c.4455C>A (p.Thr1485=) c.5001C>A (p.Thr1667=) c.4818C>A (p.Thr1606=) c.4539C>A (p.Thr1513=) c.3582C>A (p.Thr1194=) c.3573C>A (p.Thr1191=) | |
| 5 | g.37020647C= | CA1539584096 | NIPBL | c.5199C= (p.Thr1733=) c.1-43931C= (n.1-43931C=) c.4455C= (p.Thr1485=) c.5001C= (p.Thr1667=) c.4818C= (p.Thr1606=) c.4539C= (p.Thr1513=) c.3582C= (p.Thr1194=) c.3573C= (p.Thr1191=) | |
| 5 | g.37020647C>G | CA443905111 | NIPBL | c.5199C>G (p.Thr1733=) c.1-43931C>G (n.1-43931C>G) c.4455C>G (p.Thr1485=) c.5001C>G (p.Thr1667=) c.4818C>G (p.Thr1606=) c.4539C>G (p.Thr1513=) c.3582C>G (p.Thr1194=) c.3573C>G (p.Thr1191=) | |
| 5 | g.37020647C>T | CA443905110 | NIPBL | c.5199C>T (p.Thr1733=) c.1-43931C>T (n.1-43931C>T) c.4455C>T (p.Thr1485=) c.5001C>T (p.Thr1667=) c.4818C>T (p.Thr1606=) c.4539C>T (p.Thr1513=) c.3582C>T (p.Thr1194=) c.3573C>T (p.Thr1191=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020648A>C | CA359487442 | NIPBL | c.5200A>C (p.Thr1734Pro) c.1-43930A>C (n.1-43930A>C) c.4456A>C (p.Thr1486Pro) c.5002A>C (p.Thr1668Pro) c.4819A>C (p.Thr1607Pro) c.4540A>C (p.Thr1514Pro) c.3583A>C (p.Thr1195Pro) c.3574A>C (p.Thr1192Pro) | |
| 5 | g.37020648A>G | CA359487451 | NIPBL | c.5200A>G (p.Thr1734Ala) c.1-43930A>G (n.1-43930A>G) c.4456A>G (p.Thr1486Ala) c.5002A>G (p.Thr1668Ala) c.4819A>G (p.Thr1607Ala) c.4540A>G (p.Thr1514Ala) c.3583A>G (p.Thr1195Ala) c.3574A>G (p.Thr1192Ala) | |
| 5 | g.37020648A>T | CA359487454 | NIPBL | c.5200A>T (p.Thr1734Ser) c.1-43930A>T (n.1-43930A>T) c.4456A>T (p.Thr1486Ser) c.5002A>T (p.Thr1668Ser) c.4819A>T (p.Thr1607Ser) c.4540A>T (p.Thr1514Ser) c.3583A>T (p.Thr1195Ser) c.3574A>T (p.Thr1192Ser) | |
| 5 | g.37020649C>A | CA359487457 | NIPBL | c.5201C>A (p.Thr1734Lys) c.1-43929C>A (n.1-43929C>A) c.4457C>A (p.Thr1486Lys) c.5003C>A (p.Thr1668Lys) c.4820C>A (p.Thr1607Lys) c.4541C>A (p.Thr1514Lys) c.3584C>A (p.Thr1195Lys) c.3575C>A (p.Thr1192Lys) | |
| 5 | g.37020649C>G | CA359487461 | NIPBL | c.5201C>G (p.Thr1734Arg) c.1-43929C>G (n.1-43929C>G) c.4457C>G (p.Thr1486Arg) c.5003C>G (p.Thr1668Arg) c.4820C>G (p.Thr1607Arg) c.4541C>G (p.Thr1514Arg) c.3584C>G (p.Thr1195Arg) c.3575C>G (p.Thr1192Arg) | |
| 5 | g.37020649C>T | CA359487463 | NIPBL | c.5201C>T (p.Thr1734Ile) c.1-43929C>T (n.1-43929C>T) c.4457C>T (p.Thr1486Ile) c.5003C>T (p.Thr1668Ile) c.4820C>T (p.Thr1607Ile) c.4541C>T (p.Thr1514Ile) c.3584C>T (p.Thr1195Ile) c.3575C>T (p.Thr1192Ile) | gnomAD v4 |
| 5 | g.37020650A>C | CA443905113 | NIPBL | c.5202A>C (p.Thr1734=) c.1-43928A>C (n.1-43928A>C) c.4458A>C (p.Thr1486=) c.5004A>C (p.Thr1668=) c.4821A>C (p.Thr1607=) c.4542A>C (p.Thr1514=) c.3585A>C (p.Thr1195=) c.3576A>C (p.Thr1192=) | |
| 5 | g.37020650A>G | CA443905115 | NIPBL | c.5202A>G (p.Thr1734=) c.1-43928A>G (n.1-43928A>G) c.4458A>G (p.Thr1486=) c.5004A>G (p.Thr1668=) c.4821A>G (p.Thr1607=) c.4542A>G (p.Thr1514=) c.3585A>G (p.Thr1195=) c.3576A>G (p.Thr1192=) | gnomAD v4 |
| 5 | g.37020650A>T | CA443905114 | NIPBL | c.5202A>T (p.Thr1734=) c.1-43928A>T (n.1-43928A>T) c.4458A>T (p.Thr1486=) c.5004A>T (p.Thr1668=) c.4821A>T (p.Thr1607=) c.4542A>T (p.Thr1514=) c.3585A>T (p.Thr1195=) c.3576A>T (p.Thr1192=) | |
| 5 | g.37020651C>A | CA359487466 | NIPBL | c.5203C>A (p.Pro1735Thr) c.1-43927C>A (n.1-43927C>A) c.4459C>A (p.Pro1487Thr) c.5005C>A (p.Pro1669Thr) c.4822C>A (p.Pro1608Thr) c.4543C>A (p.Pro1515Thr) c.3586C>A (p.Pro1196Thr) c.3577C>A (p.Pro1193Thr) | |
| 5 | g.37020651C>G | CA359487467 | NIPBL | c.5203C>G (p.Pro1735Ala) c.1-43927C>G (n.1-43927C>G) c.4459C>G (p.Pro1487Ala) c.5005C>G (p.Pro1669Ala) c.4822C>G (p.Pro1608Ala) c.4543C>G (p.Pro1515Ala) c.3586C>G (p.Pro1196Ala) c.3577C>G (p.Pro1193Ala) | |
| 5 | g.37020651C>T | CA359487468 | NIPBL | c.5203C>T (p.Pro1735Ser) c.1-43927C>T (n.1-43927C>T) c.4459C>T (p.Pro1487Ser) c.5005C>T (p.Pro1669Ser) c.4822C>T (p.Pro1608Ser) c.4543C>T (p.Pro1515Ser) c.3586C>T (p.Pro1196Ser) c.3577C>T (p.Pro1193Ser) | |
| 5 | g.37020652C>A | CA359487469 | NIPBL | c.5204C>A (p.Pro1735His) c.1-43926C>A (n.1-43926C>A) c.4460C>A (p.Pro1487His) c.5006C>A (p.Pro1669His) c.4823C>A (p.Pro1608His) c.4544C>A (p.Pro1515His) c.3587C>A (p.Pro1196His) c.3578C>A (p.Pro1193His) | |
| 5 | g.37020652C= | CA1539584101 | NIPBL | c.5204C= (p.Pro1735=) c.1-43926C= (n.1-43926C=) c.4460C= (p.Pro1487=) c.5006C= (p.Pro1669=) c.4823C= (p.Pro1608=) c.4544C= (p.Pro1515=) c.3587C= (p.Pro1196=) c.3578C= (p.Pro1193=) | |
| 5 | g.37020652C>G | CA359487470 | NIPBL | c.5204C>G (p.Pro1735Arg) c.1-43926C>G (n.1-43926C>G) c.4460C>G (p.Pro1487Arg) c.5006C>G (p.Pro1669Arg) c.4823C>G (p.Pro1608Arg) c.4544C>G (p.Pro1515Arg) c.3587C>G (p.Pro1196Arg) c.3578C>G (p.Pro1193Arg) | dbSNP gnomAD v4 |
| 5 | g.37020652C>T | CA359487472 | NIPBL | c.5204C>T (p.Pro1735Leu) c.1-43926C>T (n.1-43926C>T) c.4460C>T (p.Pro1487Leu) c.5006C>T (p.Pro1669Leu) c.4823C>T (p.Pro1608Leu) c.4544C>T (p.Pro1515Leu) c.3587C>T (p.Pro1196Leu) c.3578C>T (p.Pro1193Leu) | |
| 5 | g.37020654_37020656del | CA2673553369 | NIPBL | c.5206_5208del (p.Ser1736del) c.1-43924_1-43922del (n.1-43924_1-43922del) c.4462_4464del (p.Ser1488del) c.5008_5010del (p.Ser1670del) c.4825_4827del (p.Ser1609del) c.4546_4548del (p.Ser1516del) c.3589_3591del (p.Ser1197del) c.3580_3582del (p.Ser1194del) | gnomAD v4 |
| 5 | g.37020653T>A | CA443905117 | NIPBL | c.5205T>A (p.Pro1735=) c.1-43925T>A (n.1-43925T>A) c.4461T>A (p.Pro1487=) c.5007T>A (p.Pro1669=) c.4824T>A (p.Pro1608=) c.4545T>A (p.Pro1515=) c.3588T>A (p.Pro1196=) c.3579T>A (p.Pro1193=) | |
| 5 | g.37020653T>C | CA443905118 | NIPBL | c.5205T>C (p.Pro1735=) c.1-43925T>C (n.1-43925T>C) c.4461T>C (p.Pro1487=) c.5007T>C (p.Pro1669=) c.4824T>C (p.Pro1608=) c.4545T>C (p.Pro1515=) c.3588T>C (p.Pro1196=) c.3579T>C (p.Pro1193=) | |
| 5 | g.37020653T>G | CA443905119 | NIPBL | c.5205T>G (p.Pro1735=) c.1-43925T>G (n.1-43925T>G) c.4461T>G (p.Pro1487=) c.5007T>G (p.Pro1669=) c.4824T>G (p.Pro1608=) c.4545T>G (p.Pro1515=) c.3588T>G (p.Pro1196=) c.3579T>G (p.Pro1193=) | |
| 5 | g.37020655_37020670del | CA2695204348 | NIPBL | c.5207_5222del (p.Ser1736Ter) c.1-43923_1-43908del (n.1-43923_1-43908del) c.4463_4478del (p.Ser1488Ter) c.5009_5024del (p.Ser1670Ter) c.4826_4841del (p.Ser1609Ter) c.4547_4562del (p.Ser1516Ter) c.3590_3605del (p.Ser1197Ter) c.3581_3596del (p.Ser1194Ter) | |
| 5 | g.37020654T>A | CA359487475 | NIPBL | c.5206T>A (p.Ser1736Thr) c.1-43924T>A (n.1-43924T>A) c.4462T>A (p.Ser1488Thr) c.5008T>A (p.Ser1670Thr) c.4825T>A (p.Ser1609Thr) c.4546T>A (p.Ser1516Thr) c.3589T>A (p.Ser1197Thr) c.3580T>A (p.Ser1194Thr) | |
| 5 | g.37020654T>C | CA359487486 | NIPBL | c.5206T>C (p.Ser1736Pro) c.1-43924T>C (n.1-43924T>C) c.4462T>C (p.Ser1488Pro) c.5008T>C (p.Ser1670Pro) c.4825T>C (p.Ser1609Pro) c.4546T>C (p.Ser1516Pro) c.3589T>C (p.Ser1197Pro) c.3580T>C (p.Ser1194Pro) | |
| 5 | g.37020654T>G | CA359487483 | NIPBL | c.5206T>G (p.Ser1736Ala) c.1-43924T>G (n.1-43924T>G) c.4462T>G (p.Ser1488Ala) c.5008T>G (p.Ser1670Ala) c.4825T>G (p.Ser1609Ala) c.4546T>G (p.Ser1516Ala) c.3589T>G (p.Ser1197Ala) c.3580T>G (p.Ser1194Ala) | |
| 5 | g.37020655C>A | CA359487495 | NIPBL | c.5207C>A (p.Ser1736Tyr) c.1-43923C>A (n.1-43923C>A) c.4463C>A (p.Ser1488Tyr) c.5009C>A (p.Ser1670Tyr) c.4826C>A (p.Ser1609Tyr) c.4547C>A (p.Ser1516Tyr) c.3590C>A (p.Ser1197Tyr) c.3581C>A (p.Ser1194Tyr) | |
| 5 | g.37020655C= | CA1539584112 | NIPBL | c.5207C= (p.Ser1736=) c.1-43923C= (n.1-43923C=) c.4463C= (p.Ser1488=) c.5009C= (p.Ser1670=) c.4826C= (p.Ser1609=) c.4547C= (p.Ser1516=) c.3590C= (p.Ser1197=) c.3581C= (p.Ser1194=) | |
| 5 | g.37020655C>G | CA359487499 | NIPBL | c.5207C>G (p.Ser1736Cys) c.1-43923C>G (n.1-43923C>G) c.4463C>G (p.Ser1488Cys) c.5009C>G (p.Ser1670Cys) c.4826C>G (p.Ser1609Cys) c.4547C>G (p.Ser1516Cys) c.3590C>G (p.Ser1197Cys) c.3581C>G (p.Ser1194Cys) | |
| 5 | g.37020655C>T | CA3236714 | NIPBL | c.5207C>T (p.Ser1736Phe) c.1-43923C>T (n.1-43923C>T) c.4463C>T (p.Ser1488Phe) c.5009C>T (p.Ser1670Phe) c.4826C>T (p.Ser1609Phe) c.4547C>T (p.Ser1516Phe) c.3590C>T (p.Ser1197Phe) c.3581C>T (p.Ser1194Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020656T>A | CA443905120 | NIPBL | c.5208T>A (p.Ser1736=) c.1-43922T>A (n.1-43922T>A) c.4464T>A (p.Ser1488=) c.5010T>A (p.Ser1670=) c.4827T>A (p.Ser1609=) c.4548T>A (p.Ser1516=) c.3591T>A (p.Ser1197=) c.3582T>A (p.Ser1194=) | |
| 5 | g.37020656T>C | CA443905121 | NIPBL | c.5208T>C (p.Ser1736=) c.1-43922T>C (n.1-43922T>C) c.4464T>C (p.Ser1488=) c.5010T>C (p.Ser1670=) c.4827T>C (p.Ser1609=) c.4548T>C (p.Ser1516=) c.3591T>C (p.Ser1197=) c.3582T>C (p.Ser1194=) | dbSNP |
| 5 | g.37020656T>G | CA443905122 | NIPBL | c.5208T>G (p.Ser1736=) c.1-43922T>G (n.1-43922T>G) c.4464T>G (p.Ser1488=) c.5010T>G (p.Ser1670=) c.4827T>G (p.Ser1609=) c.4548T>G (p.Ser1516=) c.3591T>G (p.Ser1197=) c.3582T>G (p.Ser1194=) | |
| 5 | g.37020656T= | CA1539584115 | NIPBL | c.5208T= (p.Ser1736=) c.1-43922T= (n.1-43922T=) c.4464T= (p.Ser1488=) c.5010T= (p.Ser1670=) c.4827T= (p.Ser1609=) c.4548T= (p.Ser1516=) c.3591T= (p.Ser1197=) c.3582T= (p.Ser1194=) | |
| 5 | g.37020657C>A | CA359487503 | NIPBL | c.5209C>A (p.Gln1737Lys) c.1-43921C>A (n.1-43921C>A) c.4465C>A (p.Gln1489Lys) c.5011C>A (p.Gln1671Lys) c.4828C>A (p.Gln1610Lys) c.4549C>A (p.Gln1517Lys) c.3592C>A (p.Gln1198Lys) c.3583C>A (p.Gln1195Lys) | |
| 5 | g.37020657C>G | CA359487506 | NIPBL | c.5209C>G (p.Gln1737Glu) c.1-43921C>G (n.1-43921C>G) c.4465C>G (p.Gln1489Glu) c.5011C>G (p.Gln1671Glu) c.4828C>G (p.Gln1610Glu) c.4549C>G (p.Gln1517Glu) c.3592C>G (p.Gln1198Glu) c.3583C>G (p.Gln1195Glu) | |
| 5 | g.37020657C>T | CA359487509 | NIPBL | c.5209C>T (p.Gln1737Ter) c.1-43921C>T (n.1-43921C>T) c.4465C>T (p.Gln1489Ter) c.5011C>T (p.Gln1671Ter) c.4828C>T (p.Gln1610Ter) c.4549C>T (p.Gln1517Ter) c.3592C>T (p.Gln1198Ter) c.3583C>T (p.Gln1195Ter) | |
| 5 | g.37020658A= | CA1539584117 | NIPBL | c.5210A= (p.Gln1737=) c.1-43920A= (n.1-43920A=) c.4466A= (p.Gln1489=) c.5012A= (p.Gln1671=) c.4829A= (p.Gln1610=) c.4550A= (p.Gln1517=) c.3593A= (p.Gln1198=) c.3584A= (p.Gln1195=) | |
| 5 | g.37020658A>C | CA359487511 | NIPBL | c.5210A>C (p.Gln1737Pro) c.1-43920A>C (n.1-43920A>C) c.4466A>C (p.Gln1489Pro) c.5012A>C (p.Gln1671Pro) c.4829A>C (p.Gln1610Pro) c.4550A>C (p.Gln1517Pro) c.3593A>C (p.Gln1198Pro) c.3584A>C (p.Gln1195Pro) | |
| 5 | g.37020658A>G | CA3236715 | NIPBL | c.5210A>G (p.Gln1737Arg) c.1-43920A>G (n.1-43920A>G) c.4466A>G (p.Gln1489Arg) c.5012A>G (p.Gln1671Arg) c.4829A>G (p.Gln1610Arg) c.4550A>G (p.Gln1517Arg) c.3593A>G (p.Gln1198Arg) c.3584A>G (p.Gln1195Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020658A>T | CA359487519 | NIPBL | c.5210A>T (p.Gln1737Leu) c.1-43920A>T (n.1-43920A>T) c.4466A>T (p.Gln1489Leu) c.5012A>T (p.Gln1671Leu) c.4829A>T (p.Gln1610Leu) c.4550A>T (p.Gln1517Leu) c.3593A>T (p.Gln1198Leu) c.3584A>T (p.Gln1195Leu) | |
| 5 | g.37020659G>A | CA172712 | NIPBL | c.5211G>A (p.Gln1737=) c.1-43919G>A (n.1-43919G>A) c.4467G>A (p.Gln1489=) c.5013G>A (p.Gln1671=) c.4830G>A (p.Gln1610=) c.4551G>A (p.Gln1517=) c.3594G>A (p.Gln1198=) c.3585G>A (p.Gln1195=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020659G>C | CA359487524 | NIPBL | c.5211G>C (p.Gln1737His) c.1-43919G>C (n.1-43919G>C) c.4467G>C (p.Gln1489His) c.5013G>C (p.Gln1671His) c.4830G>C (p.Gln1610His) c.4551G>C (p.Gln1517His) c.3594G>C (p.Gln1198His) c.3585G>C (p.Gln1195His) | |
| 5 | g.37020659G= | CA1539584125 | NIPBL | c.5211G= (p.Gln1737=) c.1-43919G= (n.1-43919G=) c.4467G= (p.Gln1489=) c.5013G= (p.Gln1671=) c.4830G= (p.Gln1610=) c.4551G= (p.Gln1517=) c.3594G= (p.Gln1198=) c.3585G= (p.Gln1195=) | |
| 5 | g.37020659G>T | CA359487527 | NIPBL | c.5211G>T (p.Gln1737His) c.1-43919G>T (n.1-43919G>T) c.4467G>T (p.Gln1489His) c.5013G>T (p.Gln1671His) c.4830G>T (p.Gln1610His) c.4551G>T (p.Gln1517His) c.3594G>T (p.Gln1198His) c.3585G>T (p.Gln1195His) | |
| 5 | g.37020660T>A | CA359487529 | NIPBL | c.5212T>A (p.Phe1738Ile) c.1-43918T>A (n.1-43918T>A) c.4468T>A (p.Phe1490Ile) c.5014T>A (p.Phe1672Ile) c.4831T>A (p.Phe1611Ile) c.4552T>A (p.Phe1518Ile) c.3595T>A (p.Phe1199Ile) c.3586T>A (p.Phe1196Ile) | |
| 5 | g.37020660T>C | CA359487530 | NIPBL | c.5212T>C (p.Phe1738Leu) c.1-43918T>C (n.1-43918T>C) c.4468T>C (p.Phe1490Leu) c.5014T>C (p.Phe1672Leu) c.4831T>C (p.Phe1611Leu) c.4552T>C (p.Phe1518Leu) c.3595T>C (p.Phe1199Leu) c.3586T>C (p.Phe1196Leu) | |
| 5 | g.37020660T>G | CA359487531 | NIPBL | c.5212T>G (p.Phe1738Val) c.1-43918T>G (n.1-43918T>G) c.4468T>G (p.Phe1490Val) c.5014T>G (p.Phe1672Val) c.4831T>G (p.Phe1611Val) c.4552T>G (p.Phe1518Val) c.3595T>G (p.Phe1199Val) c.3586T>G (p.Phe1196Val) | |
| 5 | g.37020662dup | CA333577 | NIPBL | c.5214dup (p.Ser1739Ter) c.1-43916dup (n.1-43916dup) c.4470dup (p.Ser1491Ter) c.5016dup (p.Ser1673Ter) c.4833dup (p.Ser1612Ter) c.4554dup (p.Ser1519Ter) c.3597dup (p.Ser1200Ter) c.3588dup (p.Ser1197Ter) | ClinVar dbSNP |
| 5 | g.37020661T>A | CA359487534 | NIPBL | c.5213T>A (p.Phe1738Tyr) c.1-43917T>A (n.1-43917T>A) c.4469T>A (p.Phe1490Tyr) c.5015T>A (p.Phe1672Tyr) c.4832T>A (p.Phe1611Tyr) c.4553T>A (p.Phe1518Tyr) c.3596T>A (p.Phe1199Tyr) c.3587T>A (p.Phe1196Tyr) | |
| 5 | g.37020661T>C | CA359487532 | NIPBL | c.5213T>C (p.Phe1738Ser) c.1-43917T>C (n.1-43917T>C) c.4469T>C (p.Phe1490Ser) c.5015T>C (p.Phe1672Ser) c.4832T>C (p.Phe1611Ser) c.4553T>C (p.Phe1518Ser) c.3596T>C (p.Phe1199Ser) c.3587T>C (p.Phe1196Ser) | |
| 5 | g.37020661T>G | CA359487533 | NIPBL | c.5213T>G (p.Phe1738Cys) c.1-43917T>G (n.1-43917T>G) c.4469T>G (p.Phe1490Cys) c.5015T>G (p.Phe1672Cys) c.4832T>G (p.Phe1611Cys) c.4553T>G (p.Phe1518Cys) c.3596T>G (p.Phe1199Cys) c.3587T>G (p.Phe1196Cys) | |
| 5 | g.37020662T>A | CA359487537 | NIPBL | c.5214T>A (p.Phe1738Leu) c.1-43916T>A (n.1-43916T>A) c.4470T>A (p.Phe1490Leu) c.5016T>A (p.Phe1672Leu) c.4833T>A (p.Phe1611Leu) c.4554T>A (p.Phe1518Leu) c.3597T>A (p.Phe1199Leu) c.3588T>A (p.Phe1196Leu) | |
| 5 | g.37020662T>C | CA443905127 | NIPBL | c.5214T>C (p.Phe1738=) c.1-43916T>C (n.1-43916T>C) c.4470T>C (p.Phe1490=) c.5016T>C (p.Phe1672=) c.4833T>C (p.Phe1611=) c.4554T>C (p.Phe1518=) c.3597T>C (p.Phe1199=) c.3588T>C (p.Phe1196=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020662T>G | CA359487540 | NIPBL | c.5214T>G (p.Phe1738Leu) c.1-43916T>G (n.1-43916T>G) c.4470T>G (p.Phe1490Leu) c.5016T>G (p.Phe1672Leu) c.4833T>G (p.Phe1611Leu) c.4554T>G (p.Phe1518Leu) c.3597T>G (p.Phe1199Leu) c.3588T>G (p.Phe1196Leu) | |
| 5 | g.37020662T= | CA1539584143 | NIPBL | c.5214T= (p.Phe1738=) c.1-43916T= (n.1-43916T=) c.4470T= (p.Phe1490=) c.5016T= (p.Phe1672=) c.4833T= (p.Phe1611=) c.4554T= (p.Phe1518=) c.3597T= (p.Phe1199=) c.3588T= (p.Phe1196=) | |
| 5 | g.37020663A>C | CA359487545 | NIPBL | c.5215A>C (p.Ser1739Arg) c.1-43915A>C (n.1-43915A>C) c.4471A>C (p.Ser1491Arg) c.5017A>C (p.Ser1673Arg) c.4834A>C (p.Ser1612Arg) c.4555A>C (p.Ser1519Arg) c.3598A>C (p.Ser1200Arg) c.3589A>C (p.Ser1197Arg) | |
| 5 | g.37020663A>G | CA359487547 | NIPBL | c.5215A>G (p.Ser1739Gly) c.1-43915A>G (n.1-43915A>G) c.4471A>G (p.Ser1491Gly) c.5017A>G (p.Ser1673Gly) c.4834A>G (p.Ser1612Gly) c.4555A>G (p.Ser1519Gly) c.3598A>G (p.Ser1200Gly) c.3589A>G (p.Ser1197Gly) | |
| 5 | g.37020663A>T | CA359487549 | NIPBL | c.5215A>T (p.Ser1739Cys) c.1-43915A>T (n.1-43915A>T) c.4471A>T (p.Ser1491Cys) c.5017A>T (p.Ser1673Cys) c.4834A>T (p.Ser1612Cys) c.4555A>T (p.Ser1519Cys) c.3598A>T (p.Ser1200Cys) c.3589A>T (p.Ser1197Cys) | |
| 5 | g.37020664G>A | CA359487551 | NIPBL | c.5216G>A (p.Ser1739Asn) c.1-43914G>A (n.1-43914G>A) c.4472G>A (p.Ser1491Asn) c.5018G>A (p.Ser1673Asn) c.4835G>A (p.Ser1612Asn) c.4556G>A (p.Ser1519Asn) c.3599G>A (p.Ser1200Asn) c.3590G>A (p.Ser1197Asn) | COSMIC COSMIC |
| 5 | g.37020664G>C | CA359487552 | NIPBL | c.5216G>C (p.Ser1739Thr) c.1-43914G>C (n.1-43914G>C) c.4472G>C (p.Ser1491Thr) c.5018G>C (p.Ser1673Thr) c.4835G>C (p.Ser1612Thr) c.4556G>C (p.Ser1519Thr) c.3599G>C (p.Ser1200Thr) c.3590G>C (p.Ser1197Thr) | |
| 5 | g.37020664G>T | CA359487553 | NIPBL | c.5216G>T (p.Ser1739Ile) c.1-43914G>T (n.1-43914G>T) c.4472G>T (p.Ser1491Ile) c.5018G>T (p.Ser1673Ile) c.4835G>T (p.Ser1612Ile) c.4556G>T (p.Ser1519Ile) c.3599G>T (p.Ser1200Ile) c.3590G>T (p.Ser1197Ile) | |
| 5 | g.37020665C>A | CA359487554 | NIPBL | c.5217C>A (p.Ser1739Arg) c.1-43913C>A (n.1-43913C>A) c.4473C>A (p.Ser1491Arg) c.5019C>A (p.Ser1673Arg) c.4836C>A (p.Ser1612Arg) c.4557C>A (p.Ser1519Arg) c.3600C>A (p.Ser1200Arg) c.3591C>A (p.Ser1197Arg) | |
| 5 | g.37020665C>G | CA359487555 | NIPBL | c.5217C>G (p.Ser1739Arg) c.1-43913C>G (n.1-43913C>G) c.4473C>G (p.Ser1491Arg) c.5019C>G (p.Ser1673Arg) c.4836C>G (p.Ser1612Arg) c.4557C>G (p.Ser1519Arg) c.3600C>G (p.Ser1200Arg) c.3591C>G (p.Ser1197Arg) | |
| 5 | g.37020665C>T | CA443905132 | NIPBL | c.5217C>T (p.Ser1739=) c.1-43913C>T (n.1-43913C>T) c.4473C>T (p.Ser1491=) c.5019C>T (p.Ser1673=) c.4836C>T (p.Ser1612=) c.4557C>T (p.Ser1519=) c.3600C>T (p.Ser1200=) c.3591C>T (p.Ser1197=) | |
| 5 | g.37020666A>C | CA359487559 | NIPBL | c.5218A>C (p.Thr1740Pro) c.1-43912A>C (n.1-43912A>C) c.4474A>C (p.Thr1492Pro) c.5020A>C (p.Thr1674Pro) c.4837A>C (p.Thr1613Pro) c.4558A>C (p.Thr1520Pro) c.3601A>C (p.Thr1201Pro) c.3592A>C (p.Thr1198Pro) | |
| 5 | g.37020666A>G | CA359487557 | NIPBL | c.5218A>G (p.Thr1740Ala) c.1-43912A>G (n.1-43912A>G) c.4474A>G (p.Thr1492Ala) c.5020A>G (p.Thr1674Ala) c.4837A>G (p.Thr1613Ala) c.4558A>G (p.Thr1520Ala) c.3601A>G (p.Thr1201Ala) c.3592A>G (p.Thr1198Ala) | |
| 5 | g.37020666A>T | CA359487556 | NIPBL | c.5218A>T (p.Thr1740Ser) c.1-43912A>T (n.1-43912A>T) c.4474A>T (p.Thr1492Ser) c.5020A>T (p.Thr1674Ser) c.4837A>T (p.Thr1613Ser) c.4558A>T (p.Thr1520Ser) c.3601A>T (p.Thr1201Ser) c.3592A>T (p.Thr1198Ser) | |
| 5 | g.37020667C>A | CA359487560 | NIPBL | c.5219C>A (p.Thr1740Lys) c.1-43911C>A (n.1-43911C>A) c.4475C>A (p.Thr1492Lys) c.5021C>A (p.Thr1674Lys) c.4838C>A (p.Thr1613Lys) c.4559C>A (p.Thr1520Lys) c.3602C>A (p.Thr1201Lys) c.3593C>A (p.Thr1198Lys) | |
| 5 | g.37020667C>G | CA359487561 | NIPBL | c.5219C>G (p.Thr1740Arg) c.1-43911C>G (n.1-43911C>G) c.4475C>G (p.Thr1492Arg) c.5021C>G (p.Thr1674Arg) c.4838C>G (p.Thr1613Arg) c.4559C>G (p.Thr1520Arg) c.3602C>G (p.Thr1201Arg) c.3593C>G (p.Thr1198Arg) | |
| 5 | g.37020667C>T | CA359487562 | NIPBL | c.5219C>T (p.Thr1740Ile) c.1-43911C>T (n.1-43911C>T) c.4475C>T (p.Thr1492Ile) c.5021C>T (p.Thr1674Ile) c.4838C>T (p.Thr1613Ile) c.4559C>T (p.Thr1520Ile) c.3602C>T (p.Thr1201Ile) c.3593C>T (p.Thr1198Ile) | |
| 5 | g.37020668del | CA2695204349 | NIPBL | c.5220del (p.Leu1741Ter) c.1-43910del (n.1-43910del) c.4476del (p.Leu1493Ter) c.5022del (p.Leu1675Ter) c.4839del (p.Leu1614Ter) c.4560del (p.Leu1521Ter) c.3603del (p.Leu1202Ter) c.3594del (p.Leu1199Ter) | |
| 5 | g.37020668A>C | CA443905134 | NIPBL | c.5220A>C (p.Thr1740=) c.1-43910A>C (n.1-43910A>C) c.4476A>C (p.Thr1492=) c.5022A>C (p.Thr1674=) c.4839A>C (p.Thr1613=) c.4560A>C (p.Thr1520=) c.3603A>C (p.Thr1201=) c.3594A>C (p.Thr1198=) | |
| 5 | g.37020668A>G | CA443905135 | NIPBL | c.5220A>G (p.Thr1740=) c.1-43910A>G (n.1-43910A>G) c.4476A>G (p.Thr1492=) c.5022A>G (p.Thr1674=) c.4839A>G (p.Thr1613=) c.4560A>G (p.Thr1520=) c.3603A>G (p.Thr1201=) c.3594A>G (p.Thr1198=) | gnomAD v4 |
| 5 | g.37020668A>T | CA443905136 | NIPBL | c.5220A>T (p.Thr1740=) c.1-43910A>T (n.1-43910A>T) c.4476A>T (p.Thr1492=) c.5022A>T (p.Thr1674=) c.4839A>T (p.Thr1613=) c.4560A>T (p.Thr1520=) c.3603A>T (p.Thr1201=) c.3594A>T (p.Thr1198=) | |
| 5 | g.37020669T>A | CA359487563 | NIPBL | c.5221T>A (p.Leu1741Ile) c.1-43909T>A (n.1-43909T>A) c.4477T>A (p.Leu1493Ile) c.5023T>A (p.Leu1675Ile) c.4840T>A (p.Leu1614Ile) c.4561T>A (p.Leu1521Ile) c.3604T>A (p.Leu1202Ile) c.3595T>A (p.Leu1199Ile) | |
| 5 | g.37020669T>C | CA443905137 | NIPBL | c.5221T>C (p.Leu1741=) c.1-43909T>C (n.1-43909T>C) c.4477T>C (p.Leu1493=) c.5023T>C (p.Leu1675=) c.4840T>C (p.Leu1614=) c.4561T>C (p.Leu1521=) c.3604T>C (p.Leu1202=) c.3595T>C (p.Leu1199=) | |
| 5 | g.37020669T>G | CA359487564 | NIPBL | c.5221T>G (p.Leu1741Val) c.1-43909T>G (n.1-43909T>G) c.4477T>G (p.Leu1493Val) c.5023T>G (p.Leu1675Val) c.4840T>G (p.Leu1614Val) c.4561T>G (p.Leu1521Val) c.3604T>G (p.Leu1202Val) c.3595T>G (p.Leu1199Val) | |
| 5 | g.37020670T>A | CA359487566 | NIPBL | c.5222T>A (p.Leu1741Ter) c.1-43908T>A (n.1-43908T>A) c.4478T>A (p.Leu1493Ter) c.5024T>A (p.Leu1675Ter) c.4841T>A (p.Leu1614Ter) c.4562T>A (p.Leu1521Ter) c.3605T>A (p.Leu1202Ter) c.3596T>A (p.Leu1199Ter) | |
| 5 | g.37020670T>C | CA359487568 | NIPBL | c.5222T>C (p.Leu1741Ser) c.1-43908T>C (n.1-43908T>C) c.4478T>C (p.Leu1493Ser) c.5024T>C (p.Leu1675Ser) c.4841T>C (p.Leu1614Ser) c.4562T>C (p.Leu1521Ser) c.3605T>C (p.Leu1202Ser) c.3596T>C (p.Leu1199Ser) | |
| 5 | g.37020670T>G | CA359487572 | NIPBL | c.5222T>G (p.Leu1741Ter) c.1-43908T>G (n.1-43908T>G) c.4478T>G (p.Leu1493Ter) c.5024T>G (p.Leu1675Ter) c.4841T>G (p.Leu1614Ter) c.4562T>G (p.Leu1521Ter) c.3605T>G (p.Leu1202Ter) c.3596T>G (p.Leu1199Ter) | |
| 5 | g.37020673_37020677del | CA2695204350 | NIPBL | c.5225_5225+4del c.1-43905_1-43901del (n.1-43905_1-43901del) c.4481_4481+4del c.5027_5027+4del c.4844_4844+4del c.4565_4565+4del c.3608_3608+4del c.3599_3599+4del | |
| 5 | g.37020671A>C | CA359487575 | NIPBL | c.5223A>C (p.Leu1741Phe) c.1-43907A>C (n.1-43907A>C) c.4479A>C (p.Leu1493Phe) c.5025A>C (p.Leu1675Phe) c.4842A>C (p.Leu1614Phe) c.4563A>C (p.Leu1521Phe) c.3606A>C (p.Leu1202Phe) c.3597A>C (p.Leu1199Phe) | |
| 5 | g.37020671A>G | CA443905138 | NIPBL | c.5223A>G (p.Leu1741=) c.1-43907A>G (n.1-43907A>G) c.4479A>G (p.Leu1493=) c.5025A>G (p.Leu1675=) c.4842A>G (p.Leu1614=) c.4563A>G (p.Leu1521=) c.3606A>G (p.Leu1202=) c.3597A>G (p.Leu1199=) | |
| 5 | g.37020671A>T | CA359487579 | NIPBL | c.5223A>T (p.Leu1741Phe) c.1-43907A>T (n.1-43907A>T) c.4479A>T (p.Leu1493Phe) c.5025A>T (p.Leu1675Phe) c.4842A>T (p.Leu1614Phe) c.4563A>T (p.Leu1521Phe) c.3606A>T (p.Leu1202Phe) c.3597A>T (p.Leu1199Phe) | |
| 5 | g.37020672A>C | CA359487582 | NIPBL | c.5224A>C (p.Lys1742Gln) c.1-43906A>C (n.1-43906A>C) c.4480A>C (p.Lys1494Gln) c.5026A>C (p.Lys1676Gln) c.4843A>C (p.Lys1615Gln) c.4564A>C (p.Lys1522Gln) c.3607A>C (p.Lys1203Gln) c.3598A>C (p.Lys1200Gln) | |
| 5 | g.37020672A>G | CA359487584 | NIPBL | c.5224A>G (p.Lys1742Glu) c.1-43906A>G (n.1-43906A>G) c.4480A>G (p.Lys1494Glu) c.5026A>G (p.Lys1676Glu) c.4843A>G (p.Lys1615Glu) c.4564A>G (p.Lys1522Glu) c.3607A>G (p.Lys1203Glu) c.3598A>G (p.Lys1200Glu) | |
| 5 | g.37020672A>T | CA359487586 | NIPBL | c.5224A>T (p.Lys1742Ter) c.1-43906A>T (n.1-43906A>T) c.4480A>T (p.Lys1494Ter) c.5026A>T (p.Lys1676Ter) c.4843A>T (p.Lys1615Ter) c.4564A>T (p.Lys1522Ter) c.3607A>T (p.Lys1203Ter) c.3598A>T (p.Lys1200Ter) | |
| 5 | g.37020675_37020678del | CA2580617960 | NIPBL | c.5225+2_5225+5del c.1-43903_1-43900del (n.1-43903_1-43900del) c.4481+2_4481+5del c.5027+2_5027+5del c.4844+2_4844+5del c.4565+2_4565+5del c.3608+2_3608+5del c.3599+2_3599+5del | ClinVar |
| 5 | g.37020673_37020679del | CA2695196527 | NIPBL | c.5225_5225+6del c.1-43905_1-43899del (n.1-43905_1-43899del) c.4481_4481+6del c.5027_5027+6del c.4844_4844+6del c.4565_4565+6del c.3608_3608+6del c.3599_3599+6del | |
| 5 | g.37020673A>C | CA359487601 | NIPBL | c.5225A>C (p.Lys1742Thr) c.1-43905A>C (n.1-43905A>C) c.4481A>C (p.Lys1494Thr) c.5027A>C (p.Lys1676Thr) c.4844A>C (p.Lys1615Thr) c.4565A>C (p.Lys1522Thr) c.3608A>C (p.Lys1203Thr) c.3599A>C (p.Lys1200Thr) | |
| 5 | g.37020673A>G | CA359487597 | NIPBL | c.5225A>G (p.Lys1742Arg) c.1-43905A>G (n.1-43905A>G) c.4481A>G (p.Lys1494Arg) c.5027A>G (p.Lys1676Arg) c.4844A>G (p.Lys1615Arg) c.4565A>G (p.Lys1522Arg) c.3608A>G (p.Lys1203Arg) c.3599A>G (p.Lys1200Arg) | ClinVar dbSNP |
| 5 | g.37020673A>T | CA359487600 | NIPBL | c.5225A>T (p.Lys1742Met) c.1-43905A>T (n.1-43905A>T) c.4481A>T (p.Lys1494Met) c.5027A>T (p.Lys1676Met) c.4844A>T (p.Lys1615Met) c.4565A>T (p.Lys1522Met) c.3608A>T (p.Lys1203Met) c.3599A>T (p.Lys1200Met) | |
| 5 | g.37020674G>A | CA359487603 | NIPBL | c.5225+1G>A (n.5225+1G>A) c.1-43904G>A (n.1-43904G>A) c.4481+1G>A (n.4481+1G>A) c.5027+1G>A (n.5027+1G>A) c.4844+1G>A (n.4844+1G>A) c.4565+1G>A (n.4565+1G>A) c.3608+1G>A (n.3608+1G>A) c.3599+1G>A (n.3599+1G>A) | |
| 5 | g.37020674G>C | CA359487604 | NIPBL | c.5225+1G>C (n.5225+1G>C) c.1-43904G>C (n.1-43904G>C) c.4481+1G>C (n.4481+1G>C) c.5027+1G>C (n.5027+1G>C) c.4844+1G>C (n.4844+1G>C) c.4565+1G>C (n.4565+1G>C) c.3608+1G>C (n.3608+1G>C) c.3599+1G>C (n.3599+1G>C) | |
| 5 | g.37020674G= | CA1539584154 | NIPBL | c.5225+1G= (n.5225+1G=) c.1-43904G= (n.1-43904G=) c.4481+1G= (n.4481+1G=) c.5027+1G= (n.5027+1G=) c.4844+1G= (n.4844+1G=) c.4565+1G= (n.4565+1G=) c.3608+1G= (n.3608+1G=) c.3599+1G= (n.3599+1G=) | |
| 5 | g.37020674G>T | CA359487605 | NIPBL | c.5225+1G>T (n.5225+1G>T) c.1-43904G>T (n.1-43904G>T) c.4481+1G>T (n.4481+1G>T) c.5027+1G>T (n.5027+1G>T) c.4844+1G>T (n.4844+1G>T) c.4565+1G>T (n.4565+1G>T) c.3608+1G>T (n.3608+1G>T) c.3599+1G>T (n.3599+1G>T) | |
| 5 | g.37020675T>A | CA359487611 | NIPBL | c.5225+2T>A (n.5225+2T>A) c.1-43903T>A (n.1-43903T>A) c.4481+2T>A (n.4481+2T>A) c.5027+2T>A (n.5027+2T>A) c.4844+2T>A (n.4844+2T>A) c.4565+2T>A (n.4565+2T>A) c.3608+2T>A (n.3608+2T>A) c.3599+2T>A (n.3599+2T>A) | |
| 5 | g.37020675T>C | CA359487612 | NIPBL | c.5225+2T>C (n.5225+2T>C) c.1-43903T>C (n.1-43903T>C) c.4481+2T>C (n.4481+2T>C) c.5027+2T>C (n.5027+2T>C) c.4844+2T>C (n.4844+2T>C) c.4565+2T>C (n.4565+2T>C) c.3608+2T>C (n.3608+2T>C) c.3599+2T>C (n.3599+2T>C) | |
| 5 | g.37020675T>G | CA359487613 | NIPBL | c.5225+2T>G (n.5225+2T>G) c.1-43903T>G (n.1-43903T>G) c.4481+2T>G (n.4481+2T>G) c.5027+2T>G (n.5027+2T>G) c.4844+2T>G (n.4844+2T>G) c.4565+2T>G (n.4565+2T>G) c.3608+2T>G (n.3608+2T>G) c.3599+2T>G (n.3599+2T>G) | ClinVar |
| 5 | g.37020675dup | CA1539584157 | NIPBL | c.5225+2dup (n.5225+2dup) c.1-43903dup (n.1-43903dup) c.4481+2dup (n.4481+2dup) c.5027+2dup (n.5027+2dup) c.4844+2dup (n.4844+2dup) c.4565+2dup (n.4565+2dup) c.3608+2dup (n.3608+2dup) c.3599+2dup (n.3599+2dup) | dbSNP |
| 5 | g.37020676A>C | CA2695204351 | NIPBL | c.5225+3A>C (n.5225+3A>C) c.1-43902A>C (n.1-43902A>C) c.4481+3A>C (n.4481+3A>C) c.5027+3A>C (n.5027+3A>C) c.4844+3A>C (n.4844+3A>C) c.4565+3A>C (n.4565+3A>C) c.3608+3A>C (n.3608+3A>C) c.3599+3A>C (n.3599+3A>C) | |
| 5 | g.37020680T>A | CA3236716 | NIPBL | c.5225+7T>A (n.5225+7T>A) c.1-43898T>A (n.1-43898T>A) c.4481+7T>A (n.4481+7T>A) c.5027+7T>A (n.5027+7T>A) c.4844+7T>A (n.4844+7T>A) c.4565+7T>A (n.4565+7T>A) c.3608+7T>A (n.3608+7T>A) c.3599+7T>A (n.3599+7T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020680T>C | CA1539584164 | NIPBL | c.5225+7T>C (n.5225+7T>C) c.1-43898T>C (n.1-43898T>C) c.4481+7T>C (n.4481+7T>C) c.5027+7T>C (n.5027+7T>C) c.4844+7T>C (n.4844+7T>C) c.4565+7T>C (n.4565+7T>C) c.3608+7T>C (n.3608+7T>C) c.3599+7T>C (n.3599+7T>C) | dbSNP |
| 5 | g.37020680T>G | CA2507259126 | NIPBL | c.5225+7T>G (n.5225+7T>G) c.1-43898T>G (n.1-43898T>G) c.4481+7T>G (n.4481+7T>G) c.5027+7T>G (n.5027+7T>G) c.4844+7T>G (n.4844+7T>G) c.4565+7T>G (n.4565+7T>G) c.3608+7T>G (n.3608+7T>G) c.3599+7T>G (n.3599+7T>G) | gnomAD v4 |
| 5 | g.37020680T= | CA1539584162 | NIPBL | c.5225+7T= (n.5225+7T=) c.1-43898T= (n.1-43898T=) c.4481+7T= (n.4481+7T=) c.5027+7T= (n.5027+7T=) c.4844+7T= (n.4844+7T=) c.4565+7T= (n.4565+7T=) c.3608+7T= (n.3608+7T=) c.3599+7T= (n.3599+7T=) | |
| 5 | g.37020683A= | CA1539584168 | NIPBL | c.5225+10A= (n.5225+10A=) c.1-43895A= (n.1-43895A=) c.4481+10A= (n.4481+10A=) c.5027+10A= (n.5027+10A=) c.4844+10A= (n.4844+10A=) c.4565+10A= (n.4565+10A=) c.3608+10A= (n.3608+10A=) c.3599+10A= (n.3599+10A=) | |
| 5 | g.37020683A>T | CA559295224 | NIPBL | c.5225+10A>T (n.5225+10A>T) c.1-43895A>T (n.1-43895A>T) c.4481+10A>T (n.4481+10A>T) c.5027+10A>T (n.5027+10A>T) c.4844+10A>T (n.4844+10A>T) c.4565+10A>T (n.4565+10A>T) c.3608+10A>T (n.3608+10A>T) c.3599+10A>T (n.3599+10A>T) | dbSNP gnomAD v2 |
| 5 | g.37020684A>G | CA2673553390 | NIPBL | c.5225+11A>G (n.5225+11A>G) c.1-43894A>G (n.1-43894A>G) c.4481+11A>G (n.4481+11A>G) c.5027+11A>G (n.5027+11A>G) c.4844+11A>G (n.4844+11A>G) c.4565+11A>G (n.4565+11A>G) c.3608+11A>G (n.3608+11A>G) c.3599+11A>G (n.3599+11A>G) | gnomAD v4 |
| 5 | g.37020685G>A | CA2508304324 | NIPBL | c.5225+12G>A (n.5225+12G>A) c.1-43893G>A (n.1-43893G>A) c.4481+12G>A (n.4481+12G>A) c.5027+12G>A (n.5027+12G>A) c.4844+12G>A (n.4844+12G>A) c.4565+12G>A (n.4565+12G>A) c.3608+12G>A (n.3608+12G>A) c.3599+12G>A (n.3599+12G>A) | |
| 5 | g.37020685G>C | CA2673553392 | NIPBL | c.5225+12G>C (n.5225+12G>C) c.1-43893G>C (n.1-43893G>C) c.4481+12G>C (n.4481+12G>C) c.5027+12G>C (n.5027+12G>C) c.4844+12G>C (n.4844+12G>C) c.4565+12G>C (n.4565+12G>C) c.3608+12G>C (n.3608+12G>C) c.3599+12G>C (n.3599+12G>C) | gnomAD v4 |
| 5 | g.37020685G= | CA1539584170 | NIPBL | c.5225+12G= (n.5225+12G=) c.1-43893G= (n.1-43893G=) c.4481+12G= (n.4481+12G=) c.5027+12G= (n.5027+12G=) c.4844+12G= (n.4844+12G=) c.4565+12G= (n.4565+12G=) c.3608+12G= (n.3608+12G=) c.3599+12G= (n.3599+12G=) | |
| 5 | g.37020685G>T | CA559295225 | NIPBL | c.5225+12G>T (n.5225+12G>T) c.1-43893G>T (n.1-43893G>T) c.4481+12G>T (n.4481+12G>T) c.5027+12G>T (n.5027+12G>T) c.4844+12G>T (n.4844+12G>T) c.4565+12G>T (n.4565+12G>T) c.3608+12G>T (n.3608+12G>T) c.3599+12G>T (n.3599+12G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020686G>A | CA172715 | NIPBL | c.5225+13G>A (n.5225+13G>A) c.1-43892G>A (n.1-43892G>A) c.4481+13G>A (n.4481+13G>A) c.5027+13G>A (n.5027+13G>A) c.4844+13G>A (n.4844+13G>A) c.4565+13G>A (n.4565+13G>A) c.3608+13G>A (n.3608+13G>A) c.3599+13G>A (n.3599+13G>A) | ClinVar dbSNP |
| 5 | g.37020686G= | CA1539584173 | NIPBL | c.5225+13G= (n.5225+13G=) c.1-43892G= (n.1-43892G=) c.4481+13G= (n.4481+13G=) c.5027+13G= (n.5027+13G=) c.4844+13G= (n.4844+13G=) c.4565+13G= (n.4565+13G=) c.3608+13G= (n.3608+13G=) c.3599+13G= (n.3599+13G=) | |
| 5 | g.37020688G>A | CA559295226 | NIPBL | c.5225+15G>A (n.5225+15G>A) c.1-43890G>A (n.1-43890G>A) c.4481+15G>A (n.4481+15G>A) c.5027+15G>A (n.5027+15G>A) c.4844+15G>A (n.4844+15G>A) c.4565+15G>A (n.4565+15G>A) c.3608+15G>A (n.3608+15G>A) c.3599+15G>A (n.3599+15G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020688G>C | CA2765898345 | NIPBL | c.5225+15G>C (n.5225+15G>C) c.1-43890G>C (n.1-43890G>C) c.4481+15G>C (n.4481+15G>C) c.5027+15G>C (n.5027+15G>C) c.4844+15G>C (n.4844+15G>C) c.4565+15G>C (n.4565+15G>C) c.3608+15G>C (n.3608+15G>C) c.3599+15G>C (n.3599+15G>C) | |
| 5 | g.37020688G= | CA1539584178 | NIPBL | c.5225+15G= (n.5225+15G=) c.1-43890G= (n.1-43890G=) c.4481+15G= (n.4481+15G=) c.5027+15G= (n.5027+15G=) c.4844+15G= (n.4844+15G=) c.4565+15G= (n.4565+15G=) c.3608+15G= (n.3608+15G=) c.3599+15G= (n.3599+15G=) | |
| 5 | g.37020689_37020690insTAAATGT | CA2673553397 | NIPBL | c.5225+16_5225+17insTAAATGT (n.5225+16_5225+17insTAAATGT) c.1-43889_1-43888insTAAATGT (n.1-43889_1-43888insTAAATGT) c.4481+16_4481+17insTAAATGT (n.4481+16_4481+17insTAAATGT) c.5027+16_5027+17insTAAATGT (n.5027+16_5027+17insTAAATGT) c.4844+16_4844+17insTAAATGT (n.4844+16_4844+17insTAAATGT) c.4565+16_4565+17insTAAATGT (n.4565+16_4565+17insTAAATGT) c.3608+16_3608+17insTAAATGT (n.3608+16_3608+17insTAAATGT) c.3599+16_3599+17insTAAATGT (n.3599+16_3599+17insTAAATGT) | gnomAD v4 |
| 5 | g.37020691A>G | CA2673553399 | NIPBL | c.5225+18A>G (n.5225+18A>G) c.1-43887A>G (n.1-43887A>G) c.4481+18A>G (n.4481+18A>G) c.5027+18A>G (n.5027+18A>G) c.4844+18A>G (n.4844+18A>G) c.4565+18A>G (n.4565+18A>G) c.3608+18A>G (n.3608+18A>G) c.3599+18A>G (n.3599+18A>G) | gnomAD v4 |
| 5 | g.37020692A>G | CA2578289434 | NIPBL | c.5225+19A>G (n.5225+19A>G) c.1-43886A>G (n.1-43886A>G) c.4481+19A>G (n.4481+19A>G) c.5027+19A>G (n.5027+19A>G) c.4844+19A>G (n.4844+19A>G) c.4565+19A>G (n.4565+19A>G) c.3608+19A>G (n.3608+19A>G) c.3599+19A>G (n.3599+19A>G) | |
| 5 | g.37020693_37020694del | CA2765898347 | NIPBL | c.5225+20_5225+21del (n.5225+20_5225+21del) c.1-43885_1-43884del (n.1-43885_1-43884del) c.4481+20_4481+21del (n.4481+20_4481+21del) c.5027+20_5027+21del (n.5027+20_5027+21del) c.4844+20_4844+21del (n.4844+20_4844+21del) c.4565+20_4565+21del (n.4565+20_4565+21del) c.3608+20_3608+21del (n.3608+20_3608+21del) c.3599+20_3599+21del (n.3599+20_3599+21del) | |
| 5 | g.37020692_37020693insGATC | CA2765898350 | NIPBL | c.5225+19_5225+20insGATC (n.5225+19_5225+20insGATC) c.1-43886_1-43885insGATC (n.1-43886_1-43885insGATC) c.4481+19_4481+20insGATC (n.4481+19_4481+20insGATC) c.5027+19_5027+20insGATC (n.5027+19_5027+20insGATC) c.4844+19_4844+20insGATC (n.4844+19_4844+20insGATC) c.4565+19_4565+20insGATC (n.4565+19_4565+20insGATC) c.3608+19_3608+20insGATC (n.3608+19_3608+20insGATC) c.3599+19_3599+20insGATC (n.3599+19_3599+20insGATC) | |
| 5 | g.37020694A>G | CA2673553402 | NIPBL | c.5225+21A>G (n.5225+21A>G) c.1-43884A>G (n.1-43884A>G) c.4481+21A>G (n.4481+21A>G) c.5027+21A>G (n.5027+21A>G) c.4844+21A>G (n.4844+21A>G) c.4565+21A>G (n.4565+21A>G) c.3608+21A>G (n.3608+21A>G) c.3599+21A>G (n.3599+21A>G) | gnomAD v4 |
| 5 | g.37020694A>T | CA2673553403 | NIPBL | c.5225+21A>T (n.5225+21A>T) c.1-43884A>T (n.1-43884A>T) c.4481+21A>T (n.4481+21A>T) c.5027+21A>T (n.5027+21A>T) c.4844+21A>T (n.4844+21A>T) c.4565+21A>T (n.4565+21A>T) c.3608+21A>T (n.3608+21A>T) c.3599+21A>T (n.3599+21A>T) | gnomAD v4 |
| 5 | g.37020695G>A | CA3236717 | NIPBL | c.5225+22G>A (n.5225+22G>A) c.1-43883G>A (n.1-43883G>A) c.4481+22G>A (n.4481+22G>A) c.5027+22G>A (n.5027+22G>A) c.4844+22G>A (n.4844+22G>A) c.4565+22G>A (n.4565+22G>A) c.3608+22G>A (n.3608+22G>A) c.3599+22G>A (n.3599+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020695G= | CA1539584180 | NIPBL | c.5225+22G= (n.5225+22G=) c.1-43883G= (n.1-43883G=) c.4481+22G= (n.4481+22G=) c.5027+22G= (n.5027+22G=) c.4844+22G= (n.4844+22G=) c.4565+22G= (n.4565+22G=) c.3608+22G= (n.3608+22G=) c.3599+22G= (n.3599+22G=) | |
| 5 | g.37020695_37020696dup | CA2765898353 | NIPBL | c.5225+22_5225+23dup (n.5225+22_5225+23dup) c.1-43883_1-43882dup (n.1-43883_1-43882dup) c.4481+22_4481+23dup (n.4481+22_4481+23dup) c.5027+22_5027+23dup (n.5027+22_5027+23dup) c.4844+22_4844+23dup (n.4844+22_4844+23dup) c.4565+22_4565+23dup (n.4565+22_4565+23dup) c.3608+22_3608+23dup (n.3608+22_3608+23dup) c.3599+22_3599+23dup (n.3599+22_3599+23dup) | |
| 5 | g.37020698T>C | CA2673553407 | NIPBL | c.5225+25T>C (n.5225+25T>C) c.1-43880T>C (n.1-43880T>C) c.4481+25T>C (n.4481+25T>C) c.5027+25T>C (n.5027+25T>C) c.4844+25T>C (n.4844+25T>C) c.4565+25T>C (n.4565+25T>C) c.3608+25T>C (n.3608+25T>C) c.3599+25T>C (n.3599+25T>C) | gnomAD v4 |
| 5 | g.37020698T>G | CA3236718 | NIPBL | c.5225+25T>G (n.5225+25T>G) c.1-43880T>G (n.1-43880T>G) c.4481+25T>G (n.4481+25T>G) c.5027+25T>G (n.5027+25T>G) c.4844+25T>G (n.4844+25T>G) c.4565+25T>G (n.4565+25T>G) c.3608+25T>G (n.3608+25T>G) c.3599+25T>G (n.3599+25T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020698T= | CA1539584182 | NIPBL | c.5225+25T= (n.5225+25T=) c.1-43880T= (n.1-43880T=) c.4481+25T= (n.4481+25T=) c.5027+25T= (n.5027+25T=) c.4844+25T= (n.4844+25T=) c.4565+25T= (n.4565+25T=) c.3608+25T= (n.3608+25T=) c.3599+25T= (n.3599+25T=) | |
| 5 | g.37020699A= | CA1539584186 | NIPBL | c.5225+26A= (n.5225+26A=) c.1-43879A= (n.1-43879A=) c.4481+26A= (n.4481+26A=) c.5027+26A= (n.5027+26A=) c.4844+26A= (n.4844+26A=) c.4565+26A= (n.4565+26A=) c.3608+26A= (n.3608+26A=) c.3599+26A= (n.3599+26A=) | |
| 5 | g.37020699A>T | CA559295227 | NIPBL | c.5225+26A>T (n.5225+26A>T) c.1-43879A>T (n.1-43879A>T) c.4481+26A>T (n.4481+26A>T) c.5027+26A>T (n.5027+26A>T) c.4844+26A>T (n.4844+26A>T) c.4565+26A>T (n.4565+26A>T) c.3608+26A>T (n.3608+26A>T) c.3599+26A>T (n.3599+26A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020699_37020705del | CA2673553409 | NIPBL | c.5225+26_5225+32del (n.5225+26_5225+32del) c.1-43879_1-43873del (n.1-43879_1-43873del) c.4481+26_4481+32del (n.4481+26_4481+32del) c.5027+26_5027+32del (n.5027+26_5027+32del) c.4844+26_4844+32del (n.4844+26_4844+32del) c.4565+26_4565+32del (n.4565+26_4565+32del) c.3608+26_3608+32del (n.3608+26_3608+32del) c.3599+26_3599+32del (n.3599+26_3599+32del) | gnomAD v4 |
| 5 | g.37020700C= | CA1539584190 | NIPBL | c.5225+27C= (n.5225+27C=) c.1-43878C= (n.1-43878C=) c.4481+27C= (n.4481+27C=) c.5027+27C= (n.5027+27C=) c.4844+27C= (n.4844+27C=) c.4565+27C= (n.4565+27C=) c.3608+27C= (n.3608+27C=) c.3599+27C= (n.3599+27C=) | |
| 5 | g.37020700C>T | CA810288403 | NIPBL | c.5225+27C>T (n.5225+27C>T) c.1-43878C>T (n.1-43878C>T) c.4481+27C>T (n.4481+27C>T) c.5027+27C>T (n.5027+27C>T) c.4844+27C>T (n.4844+27C>T) c.4565+27C>T (n.4565+27C>T) c.3608+27C>T (n.3608+27C>T) c.3599+27C>T (n.3599+27C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020701del | CA2673553415 | NIPBL | c.5225+28del (n.5225+28del) c.1-43877del (n.1-43877del) c.4481+28del (n.4481+28del) c.5027+28del (n.5027+28del) c.4844+28del (n.4844+28del) c.4565+28del (n.4565+28del) c.3608+28del (n.3608+28del) c.3599+28del (n.3599+28del) | gnomAD v4 |
| 5 | g.37020701A= | CA1539584193 | NIPBL | c.5225+28A= (n.5225+28A=) c.1-43877A= (n.1-43877A=) c.4481+28A= (n.4481+28A=) c.5027+28A= (n.5027+28A=) c.4844+28A= (n.4844+28A=) c.4565+28A= (n.4565+28A=) c.3608+28A= (n.3608+28A=) c.3599+28A= (n.3599+28A=) | |
| 5 | g.37020701A>C | CA2673553417 | NIPBL | c.5225+28A>C (n.5225+28A>C) c.1-43877A>C (n.1-43877A>C) c.4481+28A>C (n.4481+28A>C) c.5027+28A>C (n.5027+28A>C) c.4844+28A>C (n.4844+28A>C) c.4565+28A>C (n.4565+28A>C) c.3608+28A>C (n.3608+28A>C) c.3599+28A>C (n.3599+28A>C) | gnomAD v4 |
| 5 | g.37020701A>G | CA559295228 | NIPBL | c.5225+28A>G (n.5225+28A>G) c.1-43877A>G (n.1-43877A>G) c.4481+28A>G (n.4481+28A>G) c.5027+28A>G (n.5027+28A>G) c.4844+28A>G (n.4844+28A>G) c.4565+28A>G (n.4565+28A>G) c.3608+28A>G (n.3608+28A>G) c.3599+28A>G (n.3599+28A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020701A>T | CA3236719 | NIPBL | c.5225+28A>T (n.5225+28A>T) c.1-43877A>T (n.1-43877A>T) c.4481+28A>T (n.4481+28A>T) c.5027+28A>T (n.5027+28A>T) c.4844+28A>T (n.4844+28A>T) c.4565+28A>T (n.4565+28A>T) c.3608+28A>T (n.3608+28A>T) c.3599+28A>T (n.3599+28A>T) | dbSNP ExAC gnomAD v2 |
| 5 | g.37020702T>G | CA2765898359 | NIPBL | c.5225+29T>G (n.5225+29T>G) c.1-43876T>G (n.1-43876T>G) c.4481+29T>G (n.4481+29T>G) c.5027+29T>G (n.5027+29T>G) c.4844+29T>G (n.4844+29T>G) c.4565+29T>G (n.4565+29T>G) c.3608+29T>G (n.3608+29T>G) c.3599+29T>G (n.3599+29T>G) | |
| 5 | g.37020703_37020723del | CA2673553420 | NIPBL | c.5225+30_5225+50del (n.5225+30_5225+50del) c.1-43875_1-43855del (n.1-43875_1-43855del) c.4481+30_4481+50del (n.4481+30_4481+50del) c.5027+30_5027+50del (n.5027+30_5027+50del) c.4844+30_4844+50del (n.4844+30_4844+50del) c.4565+30_4565+50del (n.4565+30_4565+50del) c.3608+30_3608+50del (n.3608+30_3608+50del) c.3599+30_3599+50del (n.3599+30_3599+50del) | gnomAD v4 |
| 5 | g.37020704T= | CA1539584194 | NIPBL | c.5225+31T= (n.5225+31T=) c.1-43874T= (n.1-43874T=) c.4481+31T= (n.4481+31T=) c.5027+31T= (n.5027+31T=) c.4844+31T= (n.4844+31T=) c.4565+31T= (n.4565+31T=) c.3608+31T= (n.3608+31T=) c.3599+31T= (n.3599+31T=) | |
| 5 | g.37020705A>G | CA2578289435 | NIPBL | c.5225+32A>G (n.5225+32A>G) c.1-43873A>G (n.1-43873A>G) c.4481+32A>G (n.4481+32A>G) c.5027+32A>G (n.5027+32A>G) c.4844+32A>G (n.4844+32A>G) c.4565+32A>G (n.4565+32A>G) c.3608+32A>G (n.3608+32A>G) c.3599+32A>G (n.3599+32A>G) | gnomAD v4 |
| 5 | g.37020705_37020707dup | CA1539584199 | NIPBL | c.5225+32_5225+34dup (n.5225+32_5225+34dup) c.1-43873_1-43871dup (n.1-43873_1-43871dup) c.4481+32_4481+34dup (n.4481+32_4481+34dup) c.5027+32_5027+34dup (n.5027+32_5027+34dup) c.4844+32_4844+34dup (n.4844+32_4844+34dup) c.4565+32_4565+34dup (n.4565+32_4565+34dup) c.3608+32_3608+34dup (n.3608+32_3608+34dup) c.3599+32_3599+34dup (n.3599+32_3599+34dup) | dbSNP |
| 5 | g.37020707C>A | CA3236720 | NIPBL | c.5225+34C>A (n.5225+34C>A) c.1-43871C>A (n.1-43871C>A) c.4481+34C>A (n.4481+34C>A) c.5027+34C>A (n.5027+34C>A) c.4844+34C>A (n.4844+34C>A) c.4565+34C>A (n.4565+34C>A) c.3608+34C>A (n.3608+34C>A) c.3599+34C>A (n.3599+34C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020707C= | CA1539584201 | NIPBL | c.5225+34C= (n.5225+34C=) c.1-43871C= (n.1-43871C=) c.4481+34C= (n.4481+34C=) c.5027+34C= (n.5027+34C=) c.4844+34C= (n.4844+34C=) c.4565+34C= (n.4565+34C=) c.3608+34C= (n.3608+34C=) c.3599+34C= (n.3599+34C=) | |
| 5 | g.37020709C>A | CA2552127796 | NIPBL | c.5225+36C>A (n.5225+36C>A) c.1-43869C>A (n.1-43869C>A) c.4481+36C>A (n.4481+36C>A) c.5027+36C>A (n.5027+36C>A) c.4844+36C>A (n.4844+36C>A) c.4565+36C>A (n.4565+36C>A) c.3608+36C>A (n.3608+36C>A) c.3599+36C>A (n.3599+36C>A) | |
| 5 | g.37020709C>T | CA2578289436 | NIPBL | c.5225+36C>T (n.5225+36C>T) c.1-43869C>T (n.1-43869C>T) c.4481+36C>T (n.4481+36C>T) c.5027+36C>T (n.5027+36C>T) c.4844+36C>T (n.4844+36C>T) c.4565+36C>T (n.4565+36C>T) c.3608+36C>T (n.3608+36C>T) c.3599+36C>T (n.3599+36C>T) | |
| 5 | g.37020710_37020712del | CA2673553421 | NIPBL | c.5225+37_5225+39del (n.5225+37_5225+39del) c.1-43868_1-43866del (n.1-43868_1-43866del) c.4481+37_4481+39del (n.4481+37_4481+39del) c.5027+37_5027+39del (n.5027+37_5027+39del) c.4844+37_4844+39del (n.4844+37_4844+39del) c.4565+37_4565+39del (n.4565+37_4565+39del) c.3608+37_3608+39del (n.3608+37_3608+39del) c.3599+37_3599+39del (n.3599+37_3599+39del) | gnomAD v4 |
| 5 | g.37020711T>G | CA2673553422 | NIPBL | c.5225+38T>G (n.5225+38T>G) c.1-43867T>G (n.1-43867T>G) c.4481+38T>G (n.4481+38T>G) c.5027+38T>G (n.5027+38T>G) c.4844+38T>G (n.4844+38T>G) c.4565+38T>G (n.4565+38T>G) c.3608+38T>G (n.3608+38T>G) c.3599+38T>G (n.3599+38T>G) | gnomAD v4 |
| 5 | g.37020713G>C | CA117028073 | NIPBL | c.5225+40G>C (n.5225+40G>C) c.1-43865G>C (n.1-43865G>C) c.4481+40G>C (n.4481+40G>C) c.5027+40G>C (n.5027+40G>C) c.4844+40G>C (n.4844+40G>C) c.4565+40G>C (n.4565+40G>C) c.3608+40G>C (n.3608+40G>C) c.3599+40G>C (n.3599+40G>C) | dbSNP gnomAD v4 |
| 5 | g.37020713G= | CA1539584204 | NIPBL | c.5225+40G= (n.5225+40G=) c.1-43865G= (n.1-43865G=) c.4481+40G= (n.4481+40G=) c.5027+40G= (n.5027+40G=) c.4844+40G= (n.4844+40G=) c.4565+40G= (n.4565+40G=) c.3608+40G= (n.3608+40G=) c.3599+40G= (n.3599+40G=) | |
| 5 | g.37020714A>C | CA2673553424 | NIPBL | c.5225+41A>C (n.5225+41A>C) c.1-43864A>C (n.1-43864A>C) c.4481+41A>C (n.4481+41A>C) c.5027+41A>C (n.5027+41A>C) c.4844+41A>C (n.4844+41A>C) c.4565+41A>C (n.4565+41A>C) c.3608+41A>C (n.3608+41A>C) c.3599+41A>C (n.3599+41A>C) | gnomAD v4 |